2074[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147898	GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1	C10orf71, C10orf71-AS1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 879771	NM_000124.4(ERCC6):c.*4208A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GLikely benign
Select item 877817	NM_000124.4(ERCC6):c.*4090G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 877818	NM_000124.4(ERCC6):c.*4019A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 877819	NM_000124.4(ERCC6):c.*3925A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 877982	NM_000124.4(ERCC6):c.*3921A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GLikely benign
Select item 877983	NM_000124.4(ERCC6):c.*3823T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GBenign
Select item 877984	NM_000124.4(ERCC6):c.*3720T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 879444	NM_000124.4(ERCC6):c.*3704C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879445	NM_000124.4(ERCC6):c.*3684A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879446	NM_000124.4(ERCC6):c.*3395A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GBenign
Select item 879813	NM_000124.4(ERCC6):c.*3366G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879814	NM_000124.4(ERCC6):c.*3356C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877870	NM_000124.4(ERCC6):c.*3280A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 877871	NM_000124.4(ERCC6):c.*3217T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 877872	NM_000124.4(ERCC6):c.*2973C>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 878033	NM_000124.4(ERCC6):c.*2946C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GBenign
Select item 878034	NM_000124.4(ERCC6):c.*2766T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 878035	NM_000124.4(ERCC6):c.*2729G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 879496	NM_000124.4(ERCC6):c.*2680A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 879497	NM_000124.4(ERCC6):c.*2662T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879859	NM_000124.4(ERCC6):c.*2602A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +3 more	GUncertain significance
Select item 879860	NM_000124.4(ERCC6):c.*2540G>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877918	NM_000124.4(ERCC6):c.*2460T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300000	NM_000124.4(ERCC6):c.*2337A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	COFS syndrome +2 more	GLikely benign
Select item 300001	NM_000124.4(ERCC6):c.*2237C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GConflicting classifications of pathogenicity
Select item 300002	NM_000124.4(ERCC6):c.*2155T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	COFS syndrome +2 more	GLikely benign
Select item 300003	NM_000124.4(ERCC6):c.*2137A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1704121	NM_000124.4(ERCC6):c.*2119C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 879544	NM_000124.4(ERCC6):c.*2031A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300004	NM_000124.4(ERCC6):c.*1981dup	ERCC6	Duplication (3 prime UTR variant)	COFS syndrome +2 more	GLikely benign
Select item 300005	NM_000124.4(ERCC6):c.1964_1966del	ERCC6	Deletion (3 prime UTR variant)	COFS syndrome +2 more	GBenign
Select item 300006	NM_000124.4(ERCC6):c.*1933A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300007	NM_000124.4(ERCC6):c.*1872C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GBenign
Select item 300008	NM_000124.4(ERCC6):c.*1860A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300009	NM_000124.4(ERCC6):c.*1830T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	COFS syndrome +3 more	GBenign
Select item 877095	NM_000124.4(ERCC6):c.*1805G>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300010	NM_000124.4(ERCC6):c.*1780T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300011	NM_000124.4(ERCC6):c.*1383T>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300012	NM_000124.4(ERCC6):c.*1327G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 300013	NM_000124.4(ERCC6):c.*1314G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	COFS syndrome +2 more	GLikely benign
Select item 300014	NM_000124.4(ERCC6):c.*1279T>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	COFS syndrome +2 more	GUncertain significance
Select item 300015	NM_000124.4(ERCC6):c.*1275C>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GBenign
Select item 300016	NM_000124.4(ERCC6):c.*1112G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300017	NM_000124.4(ERCC6):c.*977A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300018	NM_000124.4(ERCC6):c.*933G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	COFS syndrome +3 more	GBenign
Select item 878193	NM_000124.4(ERCC6):c.*922C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300019	NM_000124.4(ERCC6):c.*900C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 879644	NM_000124.4(ERCC6):c.*813C>T	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 300020	NM_000124.4(ERCC6):c.*755A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300021	NM_000124.4(ERCC6):c.*751G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300022	NM_000124.4(ERCC6):c.*681G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300023	NM_000124.4(ERCC6):c.*645G>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300024	NM_000124.4(ERCC6):c.*643G>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 877211	NM_000124.4(ERCC6):c.*589A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 300025	NM_000124.4(ERCC6):c.*482C>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300026	NM_000124.4(ERCC6):c.*388C>A	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cerebrooculofacioskeletal syndrome 1 +2 more	GUncertain significance
Select item 300027	NM_000124.4(ERCC6):c.*379C>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome +3 more	GBenign
Select item 300028	NM_000124.4(ERCC6):c.*341A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 880064	NM_000124.4(ERCC6):c.*246T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 5 +2 more	GUncertain significance
Select item 300029	NM_000124.4(ERCC6):c.*232dup	ERCC6	Duplication (3 prime UTR variant)	Macular degeneration +3 more	GUncertain significance
Select item 1213386	NM_000124.4(ERCC6):c.*232del	ERCC6	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 300030	NM_000124.4(ERCC6):c.*118A>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 300031	NM_000124.4(ERCC6):c.*53T>C	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome +3 more	GBenign
Select item 300032	NM_000124.4(ERCC6):c.*38A>G	ERCC6	Single nucleotide variant (3 prime UTR variant)	Cockayne syndrome type 2 +2 more	GUncertain significance
Select item 646404	NC_000010.11:g.(?_49458805)_(49665056_?)del	LOC130003804, LOC130003805 +10 more	Deletion	not provided	GPathogenic
Select item 1522447	NM_000124.4(ERCC6):c.4476C>T (p.Tyr1492=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633287	NM_000124.4(ERCC6):c.4464C>T (p.Leu1488=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392729	NM_000124.4(ERCC6):c.4460A>C (p.Lys1487Thr)	ERCC6 (K1487T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422408	NM_000124.4(ERCC6):c.4453A>G (p.Ile1485Val)	ERCC6 (I1485V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558025	NM_000124.4(ERCC6):c.4449A>G (p.Glu1483=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365267	NM_000124.4(ERCC6):c.4445G>T (p.Gly1482Val)	ERCC6 (G1482V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777694	NM_000124.4(ERCC6):c.4440T>C (p.Ser1480=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 300033	NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)	ERCC6 (S1480del)	Deletion (inframe_deletion)	Cockayne syndrome +5 more	GUncertain significance
Select item 2864487	NM_000124.4(ERCC6):c.4437T>C (p.Thr1479=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149912	NM_000124.4(ERCC6):c.4431T>C (p.His1477=)	ERCC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878316	NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)	ERCC6 (H1477R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2188169	NM_000124.4(ERCC6):c.4427T>C (p.Phe1476Ser)	ERCC6 (F1476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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