{"rcv": "RCV000000009", "vcv": "VCV000018396", "title": "NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys) AND DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "outer_start": null, "inner_start": null, "start": 159175494, "stop": 159175494, "inner_stop": null, "outer_stop": null, "display_start": 159175494, "display_stop": 159175494, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 159175494, "reference_allele_vcf": "C", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:4035"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000010", "vcv": "VCV000018397", "title": "NM_002036.4(ACKR1):c.286_299del (p.Trp96fs) AND DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "outer_start": null, "inner_start": null, "start": 159175509, "stop": 159175522, "inner_stop": null, "outer_stop": null, "display_start": 159175509, "display_stop": 159175522, "strand": null, "variant_length": 14, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 159175508, "reference_allele_vcf": "CCCTGGCTGGCCTGT", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:4035"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000012", "vcv": "VCV000000002", "title": "NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) AND Hereditary spastic paraplegia 48", "variant_type": "indel", "clinical_significance": "pathogenic", "review_status": "criteria provided, single submitter", "sequence_location": {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "outer_start": null, "inner_start": null, "start": 4820844, "stop": 4820847, "inner_stop": null, "outer_stop": null, "display_start": 4820844, "display_stop": 4820847, "strand": null, "variant_length": 22, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 4820844, "reference_allele_vcf": "GGAT", "alternate_allele_vcf": "TGCTGTAAACTGTAACTGTAAA", "for_display_length": null}, "hgnc_ids": ["HGNC:22197"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000013", "vcv": "VCV000000003", "title": "NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) AND Hereditary spastic paraplegia 48", "variant_type": "deletion", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "outer_start": null, "inner_start": null, "start": 4827361, "stop": 4827374, "inner_stop": null, "outer_stop": null, "display_start": 4827361, "display_stop": 4827374, "strand": null, "variant_length": 14, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 4827360, "reference_allele_vcf": "GCTGCTGGACCTGCC", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:22197"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000016", "vcv": "VCV000000006", "title": "NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) AND Mitochondrial complex 1 deficiency, nuclear type 19", "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": 126147412, "stop": 126147412, "inner_stop": null, "outer_stop": null, "display_start": 126147412, "display_stop": 126147412, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 126147412, "reference_allele_vcf": "A", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:26927"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000042", "vcv": "VCV000000025", "title": "NM_015600.4(ABHD12):c.-6898_191+7002delinsCC AND PHARC syndrome", "variant_type": "indel", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "20", "accession": "NC_000020.10", "outer_start": null, "inner_start": null, "start": 25364147, "stop": 25378237, "inner_stop": null, "outer_stop": null, "display_start": 25364147, "display_stop": 25378237, "strand": null, "variant_length": 14091, "reference_allele": null, "alternate_allele": "GG", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": null, "reference_allele_vcf": null, "alternate_allele_vcf": null, "for_display_length": null}, "hgnc_ids": ["HGNC:15868"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000043", "vcv": "VCV000000026", "title": "NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) AND PHARC syndrome", "variant_type": "duplication", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "20", "accession": "NC_000020.10", "outer_start": null, "inner_start": null, "start": 25288616, "stop": 25288617, "inner_stop": null, "outer_stop": null, "display_start": 25288616, "display_stop": 25288617, "strand": null, "variant_length": 7, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 25288616, "reference_allele_vcf": "G", "alternate_allele_vcf": "GGCTCTTA", "for_display_length": null}, "hgnc_ids": ["HGNC:15868"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000049", "vcv": "VCV000000032", "title": "NM_138413.4(HOGA1):c.700+4G>T AND Primary hyperoxaluria type 3", "variant_type": "single nucleotide variant", "clinical_significance": "pathogenic", "review_status": "no assertion criteria provided", "sequence_location": {"assembly": "GRCh37", "chr": "10", "accession": "NC_000010.10", "outer_start": null, "inner_start": null, "start": 99359924, "stop": 99359924, "inner_stop": null, "outer_stop": null, "display_start": 99359924, "display_stop": 99359924, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 99359924, "reference_allele_vcf": "G", "alternate_allele_vcf": "T", "for_display_length": null}, "hgnc_ids": ["HGNC:25155"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000057", "vcv": "VCV000000040", "title": "NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) AND Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "variant_type": "deletion", "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": 36595471, "stop": 36595474, "inner_stop": null, "outer_stop": null, "display_start": 36595471, "display_stop": 36595474, "strand": null, "variant_length": 4, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 36595470, "reference_allele_vcf": "GTGCC", "alternate_allele_vcf": "G", "for_display_length": null}, "hgnc_ids": ["HGNC:24502"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
{"rcv": "RCV000000059", "vcv": "VCV000000042", "title": "NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) AND Microcephaly 2, primary, autosomal recessive, with or without cortical malformations", "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": 36558317, "stop": 36558317, "inner_stop": null, "outer_stop": null, "display_start": 36558317, "display_stop": 36558317, "strand": null, "variant_length": 1, "reference_allele": null, "alternate_allele": null, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 36558317, "reference_allele_vcf": "G", "alternate_allele_vcf": "C", "for_display_length": null}, "hgnc_ids": ["HGNC:24502"], "absolute_copy_number": null, "reference_copy_number": null, "copy_number_tuple": null}
