#ClinGen Gene Curation Results
#21 Nov,2023
#Genomic Locations are reported on GRCh38 (hg38): GCF_000001405.36
#https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen
#to create link: https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=Gene Symbol
#Gene Symbol	Gene ID	cytoBand	Genomic Location	Haploinsufficiency Score	Haploinsufficiency Description	Haploinsufficiency PMID1	Haploinsufficiency PMID2	Haploinsufficiency PMID3	Haploinsufficiency PMID4	Haploinsufficiency PMID5	Haploinsufficiency PMID6	Triplosensitivity Score	Triplosensitivity Description	Triplosensitivity PMID1	Triplosensitivity PMID2	Triplosensitivity PMID3	Triplosensitivity PMID4	Triplosensitivity PMID5	Triplosensitivity PMID6	Date Last Evaluated	Haploinsufficiency Disease ID	Triplosensitivity Disease ID
A4GALT	53947	22q13.2	chr22:42692115-42721301	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-12-11
AAGAB	79719	15q23	chr15:67200667-67255198	3	Sufficient evidence for dosage pathogenicity	23064416	23000146					0	No evidence available							2013-02-28	MONDO:0007858
AARS1	16	16q22.1	chr16:70252295-70289552	0	No evidence available							0	No evidence available							2018-01-11
AARS2	57505	6p21.1	chr6:44297850-44313358	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0014387
AASS	10157	7q31.32	chr7:122073544-122144269	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0009388
ABAT	18	16p13.2	chr16:8674617-8784575	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0013166
ABCB11	8647	2q31.1	chr2:168915468-169031396	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2020-07-08	MONDO:0011156
ABCC8	6833	11p15.1	chr11:17392498-17476849	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2012-02-24	MONDO:0009734
ABCD1	215	Xq28	chrX:153724851-153744755	3	Sufficient evidence for dosage pathogenicity	8040304	23835273	25835712	7825602			0	No evidence available							2020-12-02	MONDO:0018544
ABCG5	64240	2p21	chr2:43806154-43838840	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0020747
ABCG8	64241	2p21	chr2:43831942-43882988	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0020747
ABHD12	26090	20p11.21	chr20:25294743-25390835	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-12-11	MONDO:0012984
ABR	29	17p13.3	chr17:1003519-1229722	0	No evidence available							0	No evidence available							2012-09-05
ABRAXAS1	84142	4q21.23	chr4:83459515-83485181	0	No evidence available	31159747	37198153	29484706				0	No evidence available							2023-07-18
ACAD8	27034	11q25	chr11:134253538-134265858	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-12-11	MONDO:0012648
ACADM	34	1p31.1	chr1:75724709-75763679	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0008721
ACADSB	36	10q26.13	chr10:123009006-123058290	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0012392
ACADVL	37	17p13.1	chr17:7217125-7225266	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0008723
ACD	65057	16q22.1	chr16:67657512-67660832	1	Little evidence for dosage pathogenicity	25505254						0	No evidence available							2019-10-09
ACOX1	51	17q25.1	chr17:75941507-75979199	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-11-20	MONDO:0009919
ACP5	54	19p13.2	chr19:11574660-11578983	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0011939
ACSF3	197322	16q24.3	chr16:89093847-89160556	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0013661
ACSL4	2182	Xq23	chrX:109641335-109733325	1	Little evidence for dosage pathogenicity	11889465	12525535	21584729	31481330	26350204	22581936	0	No evidence available							2021-04-28	MONDO:0010313
ACTA2	59	10q23.31	chr10:88935074-88991397	1	Little evidence for dosage pathogenicity	32209317	30056620	34498425				0	No evidence available							2022-09-28
ACTB	60	7p22.1	chr7:5527148-5530601	0	No evidence available	29220674	31898838	30315159	29274487			0	No evidence available							2022-02-08	MONDO:0000508
ACTC1	70	15q14	chr15:34790230-34795549	1	Little evidence for dosage pathogenicity	17947298	24503780					0	No evidence available							2015-11-17
ACTL6B	51412	7q22.1	chr7:100643097-100656448	30	Gene associated with autosomal recessive phenotype	32312822	30656450	31031012				Not yet evaluated	Not yet evaluated							2022-11-23	MONDO:0100062
ACVRL1	94	12q13.13	chr12:51906913-51923361	3	Sufficient evidence for dosage pathogenicity	18312453	20414677					0	No evidence available							2016-11-10	MONDO:0010880
ADA2	51816	22q11.1	chr22:17178790-17221854	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0014306
ADAM9	8754	8p11.22	chr8:38996767-39105261	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-12-11	MONDO:0013002
ADAMTS13	11093	9q34.2	chr9:133414337-133459403	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0010122
ADAMTS17	170691	15q26.3	chr15:99971437-100342924	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0013176
ADAMTS18	170692	16q23.1	chr16:77282128-77435034	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0014195
ADAMTS2	9509	5q35.3	chr5:179110853-179345461	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0009161
ADAMTSL2	9719	9q34.2	chr9:133532164-133575519	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0009269
ADGRG1	9289	16q21	chr16:57619535-57665567	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2012-05-17	MONDO:0011738
ADGRV1	84059	5q14.3	chr5:90558796-91164437	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2021-08-23	MONDO:0016484
ADNP	23394	20q13.13	chr20:50888918-50931437	3	Sufficient evidence for dosage pathogenicity	24531329	25533962					0	No evidence available							2017-11-22	MONDO:0014379
ADSL	158	22q13.1	chr22:40346500-40387527	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2015-11-05	MONDO:0007068
AFF2	2334	Xq28	chrX:148500617-149000663	3	Sufficient evidence for dosage pathogenicity	22065534	21739600	8673085				0	No evidence available							2020-12-08	MONDO:0010659
AGA	175	4q34.3	chr4:177430774-177442469	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0008830
AGK	55750	7q34	chr7:141551410-141662153	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-11-20	MONDO:0008922
AGPAT2	10555	9q34.3	chr9:136673143-136687457	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0012071
AGRN	375790	1p36.33	chr1:1020102-1056119	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-08-22	MONDO:0014052
AGT	183	1q42.2	chr1:230702523-230745583	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2014-11-13	MONDO:0009970
AGTR2	186	Xq23	chrX:116170744-116174974	0	No evidence available							0	No evidence available							2012-05-10	MONDO:0010454
AGXT	189	2q37.3	chr2:240868824-240880500	30	Gene associated with autosomal recessive phenotype							Not yet evaluated	Not yet evaluated							2016-08-22	MONDO:0009823
AHCY	191	20q11.22	chr20:34235012-34311976	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2016-06-08	MONDO:0013404
AHDC1	27245	1p36.11-p35.3	chr1:27534245-27604178	3	Sufficient evidence for dosage pathogenicity	24791903	27148574	29230160				0	No evidence available							2018-02-28	MONDO:0014358
AHI1	54806	6q23.3	chr6:135283532-135497771	30	Gene associated with autosomal recessive phenotype							0	No evidence available							2012-09-06	MONDO:0012078
