71[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 1272736	NM_001614.5(ACTG1):c.*284A>G	ACTG1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189483	NM_001614.5(ACTG1):c.*259C>T	ACTG1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1195787	NM_001614.5(ACTG1):c.*227C>T	ACTG1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1224582	NM_001614.5(ACTG1):c.*199A>T	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1208092	NM_001614.5(ACTG1):c.*194A>C	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1268147	NM_001614.5(ACTG1):c.*192G>C	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1272876	NM_001614.5(ACTG1):c.*146A>G	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1264887	NM_001614.5(ACTG1):c.*143G>C	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1198803	NM_001614.5(ACTG1):c.*134C>T	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1254714	NM_001614.5(ACTG1):c.*130G>A	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1277776	NM_001614.5(ACTG1):c.*128T>G	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1222647	NM_001614.5(ACTG1):c.*126C>G	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1198354	NM_001614.5(ACTG1):c.*112C>T	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240535	NM_001614.5(ACTG1):c.*32A>G	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 379406	NM_001614.5(ACTG1):c.*18G>A	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 228430	NM_001614.5(ACTG1):c.*11C>T	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1193154	NM_001614.5(ACTG1):c.*6C>G	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1283070	NM_001614.5(ACTG1):c.*2C>T	ACTG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 128269	NM_001614.5(ACTG1):c.1128A>G (p.Ter376=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 1664442	NM_001614.5(ACTG1):c.1122C>T (p.Cys374=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2940767	NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)	ACTG1 (C374Y)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 3052787	NM_001614.5(ACTG1):c.1119A>G (p.Lys373=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related condition	GLikely benign
Select item 561777	NM_001614.5(ACTG1):c.1113C>T (p.His371=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign
Select item 1562659	NM_001614.5(ACTG1):c.1110C>T (p.Val370=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 162709	NM_001614.5(ACTG1):c.1110C>A (p.Val370=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely benign
Select item 18320	NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala)	ACTG1 (V370A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20	GPathogenic
Select item 772175	NM_001614.5(ACTG1):c.1107C>T (p.Ile369=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +2 more	GLikely benign
Select item 2948472	NM_001614.5(ACTG1):c.1104C>G (p.Ser368=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 743598	NM_001614.5(ACTG1):c.1104C>T (p.Ser368=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 540214	NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe)	ACTG1 (S368F)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 1558346	NM_001614.5(ACTG1):c.1101C>T (p.Pro367=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 1912440	NM_001614.5(ACTG1):c.1098C>G (p.Gly366=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2944175	NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)	ACTG1 (G366D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GUncertain significance
Select item 596370	NM_001614.5(ACTG1):c.1095G>A (p.Ser365=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1707755	NM_001614.5(ACTG1):c.1086CGA[1] (p.Asp363del)	ACTG1 (D363del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2648457	NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely benign
Select item 516174	NM_001614.5(ACTG1):c.1086C>T (p.Tyr362=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GLikely benign
Select item 2927293	NM_001614.5(ACTG1):c.1077G>A (p.Lys359=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2005812	NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)	ACTG1 (M355R)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GUncertain significance
Select item 1643563	NM_001614.5(ACTG1):c.1056C>T (p.Phe352=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 1532505	NM_001614.5(ACTG1):c.1053C>G (p.Thr351=)	ACTG1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 384765	NM_001614.5(ACTG1):c.1053C>T (p.Thr351=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +2 more	GLikely benign
Select item 1302950	NM_001614.5(ACTG1):c.1051A>G (p.Thr351Ala)	ACTG1 (T351A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 162710	NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro)	ACTG1 (T351P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1933715	NM_001614.5(ACTG1):c.1050C>T (p.Ser350=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2053528	NM_001614.5(ACTG1):c.1044A>T (p.Ser348=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2946176	NM_001614.5(ACTG1):c.1041C>G (p.Ala347=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 667062	NM_001614.5(ACTG1):c.1041C>T (p.Ala347=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related condition +1 more	GLikely benign
Select item 434078	NM_001614.5(ACTG1):c.1039G>T (p.Ala347Ser)	ACTG1 (A347S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2038065	NM_001614.5(ACTG1):c.1036C>T (p.Leu346=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 228431	NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)	ACTG1 (L346V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GConflicting classifications of pathogenicity
Select item 516556	NM_001614.5(ACTG1):c.1029C>T (p.Gly343=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 128268	NM_001614.5(ACTG1):c.1026T>C (p.Gly342=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +3 more	GBenign
Select item 1205357	NM_001614.5(ACTG1):c.1023C>T (p.Ile341=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2940279	NM_001614.5(ACTG1):c.1017G>A (p.Val339=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 288524	NM_001614.5(ACTG1):c.1017G>C (p.Val339=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	ACTG1-related condition +4 more	GBenign/Likely benign
Select item 128267	NM_001614.5(ACTG1):c.1014G>A (p.Ser338=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1483014	NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp)	ACTG1 (S338W)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GLikely pathogenic
Select item 561395	NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu)	ACTG1 (S338L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1582639	NM_001614.5(ACTG1):c.1008G>A (p.Lys336=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 520655	NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)	ACTG1 (R335H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 561396	NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)	ACTG1 (R335C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 667399	NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp)	ACTG1 (E334D)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 689622	NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln)	ACTG1 (E334Q)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2	GUncertain significance
Select item 1810558	NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)	ACTG1 (P333R)	Single nucleotide variant (missense variant +1 more)	ACTG1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 162711	NM_001614.5(ACTG1):c.996C>A (p.Pro332=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 18317	NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)	ACTG1 (P332A)	Single nucleotide variant (missense variant +1 more)	Baraitser-winter syndrome 2 +1 more	GPathogenic
Select item 1314228	NM_001614.5(ACTG1):c.991G>A (p.Ala331Thr)	ACTG1 (A331T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072536	NM_001614.5(ACTG1):c.990C>T (p.Ile330=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 439366	NM_001614.5(ACTG1):c.985-5dup	ACTG1	Duplication (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2933027	NM_001614.5(ACTG1):c.985-5T>G	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 285535	NM_001614.5(ACTG1):c.985-5T>C	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +3 more	GBenign/Likely benign
Select item 3059636	NM_001614.5(ACTG1):c.985-8C>T	ACTG1	Single nucleotide variant (intron variant)	ACTG1-related condition	GLikely benign
Select item 2632228	NM_001614.5(ACTG1):c.985-9T>G	ACTG1	Single nucleotide variant (intron variant)	ACTG1-related condition	GUncertain significance
Select item 2073436	NM_001614.5(ACTG1):c.985-25_985-10dup	ACTG1	Duplication (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2949475	NM_001614.5(ACTG1):c.985-10G>C	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 515806	NM_001614.5(ACTG1):c.985-11T>C	ACTG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1631852	NM_001614.5(ACTG1):c.985-20G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 561417	NM_001614.5(ACTG1):c.985-32T>C	ACTG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233697	NM_001614.5(ACTG1):c.985-38G>A	ACTG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561394	NM_001614.5(ACTG1):c.985-40del	ACTG1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1947157	NM_001614.5(ACTG1):c.984+20G>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2929634	NM_001614.5(ACTG1):c.984+19G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2933814	NM_001614.5(ACTG1):c.984+17G>C	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 421684	NM_001614.5(ACTG1):c.984+13dup	ACTG1	Duplication (intron variant)	not provided	GLikely benign
Select item 2923069	NM_001614.5(ACTG1):c.984+13G>C	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2921993	NM_001614.5(ACTG1):c.984+13G>A	ACTG1	Single nucleotide variant (intron variant)	Baraitser-winter syndrome 2 +1 more	GLikely benign
Select item 2166841	NM_001614.5(ACTG1):c.984+12G>A	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 2069516	NM_001614.5(ACTG1):c.984+8G>A	ACTG1	Single nucleotide variant (intron variant)	ACTG1-related condition +2 more	GLikely benign
Select item 2090977	NM_001614.5(ACTG1):c.984+7C>G	ACTG1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign
Select item 706325	NM_001614.5(ACTG1):c.984+7C>T	ACTG1	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 2949562	NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)	ACTG1 (K328R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GConflicting classifications of pathogenicity
Select item 1615229	NM_001614.5(ACTG1):c.981C>A (p.Ile327=)	ACTG1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 20 +1 more	GLikely benign

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