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{"rcv": "RCV000000472", "vcv": "VCV000000443", "title": "NM_005581.5(BCAM):c.361C>T (p.Arg121Ter) AND BLOOD GROUP--LUTHERAN NULL", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "19", "accession": "NC_000019.9", "outer_start": null, "inner_start": null, "start": 45315576, "stop": 45315576, "inner_stop": null, "outer_stop": null, "display_start": 45315576, "display_stop": 45315576, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 45315576, "reference_allele_vcf": "C", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:6722"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000480", "vcv": "VCV000000451", "title": "NM_000097.7(CPOX):c.991C>T (p.Arg331Trp) AND Coproporphyria", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98304466, "stop": 98304466, "inner_stop": null, "outer_stop": null, "display_start": 98304466, "display_stop": 98304466, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98304466, "reference_allele_vcf": "G", "alternate_allele_vcf": "A", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000069", "vcv": "VCV000000052", "title": "NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) AND Nephronophthisis-like nephropathy 1", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "22", "accession": "NC_000022.10", "outer_start": null, "inner_start": null, "start": 41305199, "stop": 41305202, "inner_stop": null, "outer_stop": null, "display_start": 41305199, "display_stop": 41305202, "strand": null, "variant_length": 4, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 41305198, "reference_allele_vcf": "TCAAA", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:28052"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000484", "vcv": "VCV000000455", "title": "NM_000097.7(CPOX):c.489_509del (p.Cys164_Val170del) AND Coproporphyria", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98311840, "stop": 98311860, "inner_stop": null, "outer_stop": null, "display_start": 98311840, "display_stop": 98311860, "strand": null, "variant_length": 21, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98311839, "reference_allele_vcf": "TACCTGTGCCAGAGCCTGGCAC", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000485", "vcv": "VCV000000456", "title": "NM_000097.7(CPOX):c.883C>G (p.His295Asp) AND Coproporphyria", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98307627, "stop": 98307627, "inner_stop": null, "outer_stop": null, "display_start": 98307627, "display_stop": 98307627, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98307627, "reference_allele_vcf": "G", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000486", "vcv": "VCV000000457", "title": "NM_000097.7(CPOX):c.1277+3A>G AND Harderoporphyria", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98300248, "stop": 98300248, "inner_stop": null, "outer_stop": null, "display_start": 98300248, "display_stop": 98300248, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98300248, "reference_allele_vcf": "T", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000489", "vcv": "VCV000000460", "title": "NM_000097.7(CPOX):c.623C>T (p.Ser208Phe) AND Coproporphyria", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98309933, "stop": 98309933, "inner_stop": null, "outer_stop": null, "display_start": 98309933, "display_stop": 98309933, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98309933, "reference_allele_vcf": "G", "alternate_allele_vcf": "A", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000490", "vcv": "VCV000000461", "title": "NM_000097.7(CPOX):c.982C>T (p.Arg328Cys) AND Coproporphyria", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98304475, "stop": 98304475, "inner_stop": null, "outer_stop": null, "display_start": 98304475, "display_stop": 98304475, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98304475, "reference_allele_vcf": "G", "alternate_allele_vcf": "A", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000491", "vcv": "VCV000000462", "title": "NM_000097.7(CPOX):c.856dup (p.Thr286fs) AND Coproporphyria", "variant_type": "duplication", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98307653, "stop": 98307654, "inner_stop": null, "outer_stop": null, "display_start": 98307653, "display_stop": 98307654, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98307653, "reference_allele_vcf": "G", "alternate_allele_vcf": "GT", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000492", "vcv": "VCV000000463", "title": "NM_000097.7(CPOX):c.835G>C (p.Gly279Arg) AND Coproporphyria, digenic", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "outer_start": null, "inner_start": null, "start": 98307675, "stop": 98307675, "inner_stop": null, "outer_stop": null, "display_start": 98307675, "display_stop": 98307675, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 98307675, "reference_allele_vcf": "C", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:2321"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000507", "vcv": "VCV000000478", "title": "NM_000317.3(PTS):c.361_374del (p.Val121fs) AND Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "outer_start": null, "inner_start": null, "start": 112104201, "stop": 112104214, "inner_stop": null, "outer_stop": null, "display_start": 112104201, "display_stop": 112104214, "strand": null, "variant_length": 14, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 112104200, "reference_allele_vcf": "AGTTCTTCCTGTAGG", "alternate_allele_vcf": "A", "for_display_length": null}, "hgnc_ids": ["HGNC:9689"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000511", "vcv": "VCV000000482", "title": "NM_000317.3(PTS):c.139A>G (p.Asn47Asp) AND Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "outer_start": null, "inner_start": null, "start": 112099372, "stop": 112099372, "inner_stop": null, "outer_stop": null, "display_start": 112099372, "display_stop": 112099372, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 112099372, "reference_allele_vcf": "A", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:9689"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000518", "vcv": "VCV000000489", "title": "NM_000320.3(QDPR):c.366_368dup (p.Thr123dup) AND Dihydropteridine reductase deficiency", "variant_type": "duplication", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "outer_start": null, "inner_start": null, "start": 17503409, "stop": 17503410, "inner_stop": null, "outer_stop": null, "display_start": 17503409, "display_stop": 17503410, "strand": null, "variant_length": 3, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 17503409, "reference_allele_vcf": "G", "alternate_allele_vcf": "GGTA", "for_display_length": null}, "hgnc_ids": ["HGNC:9752"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000520", "vcv": "VCV000000491", "title": "NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) AND Dihydropteridine reductase deficiency", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "outer_start": null, "inner_start": null, "start": 17503456, "stop": 17503456, "inner_stop": null, "outer_stop": null, "display_start": 17503456, "display_stop": 17503456, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 17503456, "reference_allele_vcf": "A", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:9752"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000521", "vcv": "VCV000000492", "title": "NM_000320.3(QDPR):c.106T>C (p.Trp36Arg) AND Dihydropteridine reductase deficiency", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "outer_start": null, "inner_start": null, "start": 17510986, "stop": 17510986, "inner_stop": null, "outer_stop": null, "display_start": 17510986, "display_stop": 17510986, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 17510986, "reference_allele_vcf": "A", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:9752"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000523", "vcv": "VCV000000494", "title": "NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) AND Dihydropteridine reductase deficiency", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "outer_start": null, "inner_start": null, "start": 17493951, "stop": 17493951, "inner_stop": null, "outer_stop": null, "display_start": 17493951, "display_stop": 17493951, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 17493951, "reference_allele_vcf": "T", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:9752"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000524", "vcv": "VCV000000495", "title": "NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) AND Dihydropteridine reductase deficiency", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "outer_start": null, "inner_start": null, "start": 17506027, "stop": 17506027, "inner_stop": null, "outer_stop": null, "display_start": 17506027, "display_stop": 17506027, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 17506027, "reference_allele_vcf": "C", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:9752"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000526", "vcv": "VCV000000497", "title": "NM_173560.4(RFX6):c.224-12A>G AND Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "outer_start": null, "inner_start": null, "start": 117198947, "stop": 117198947, "inner_stop": null, "outer_stop": null, "display_start": 117198947, "display_stop": 117198947, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 117198947, "reference_allele_vcf": "A", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:21478"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000068", "vcv": "VCV000000051", "title": "NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) AND Nephronophthisis-like nephropathy 1", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "22", "accession": "NC_000022.10", "outer_start": null, "inner_start": null, "start": 41320486, "stop": 41320486, "inner_stop": null, "outer_stop": null, "display_start": 41320486, "display_stop": 41320486, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 41320486, "reference_allele_vcf": "G", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:28052"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
