18270[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 2322902	NM_018194.6(HHAT):c.-109G>C	HHAT (R10T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105679	NM_018194.6(HHAT):c.-97G>A	HHAT (G14E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3351290	NM_018194.6(HHAT):c.-87C>T	HHAT	Single nucleotide variant (synonymous variant +2 more)	HHAT-related disorder	GLikely benign
Select item 2469766	NM_018194.6(HHAT):c.-77C>G	HHAT (R21G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3042732	NM_018194.6(HHAT):c.-57G>C	HHAT	Single nucleotide variant (synonymous variant +2 more)	HHAT-related disorder	GLikely benign
Select item 521737	NM_018194.6(HHAT):c.1A>T (p.Met1Leu)	HHAT (M1L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1055706	NM_018194.6(HHAT):c.3G>A (p.Met1Ile)	HHAT (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2912854	NM_018194.6(HHAT):c.51C>T (p.Phe17=)	HHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 775660	NM_018194.6(HHAT):c.68A>G (p.Tyr23Cys)	HHAT (Y23C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1539917	NM_018194.6(HHAT):c.91+20A>G	HHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601509	NM_018194.6(HHAT):c.92-7dup	HHAT	Duplication (intron variant)	not provided	GBenign
Select item 789435	NM_018194.6(HHAT):c.92-6G>T	HHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717471	NM_018194.6(HHAT):c.92-5G>T	HHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1497649	NM_018194.6(HHAT):c.145G>A (p.Gly49Arg)	HHAT (G49R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713421	NM_018194.6(HHAT):c.159+5A>C	HHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599919	NM_018194.6(HHAT):c.159+15C>A	HHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2396109	NM_018194.6(HHAT):c.164C>T (p.Ala55Val)	HHAT (A56V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732819	NM_018194.6(HHAT):c.165G>A (p.Ala55=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411367	NM_018194.6(HHAT):c.167C>A (p.Thr56Asn)	HHAT (T57N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1986330	NM_018194.6(HHAT):c.168C>T (p.Thr56=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284214	NM_018194.6(HHAT):c.256A>C (p.Thr86Pro)	HHAT (T86P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709535	NM_018194.6(HHAT):c.267A>G (p.Ala89=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3284212	NM_018194.6(HHAT):c.320G>T (p.Cys107Phe)	HHAT (C108F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1348850	NM_018194.6(HHAT):c.335C>T (p.Pro112Leu)	HHAT (P112L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2489058	NM_018194.6(HHAT):c.344C>A (p.Ala115Asp)	HHAT (A115D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1048793	NM_018194.6(HHAT):c.362CCA[1] (p.Thr122del)	HHAT (T122del +1 more)	Microsatellite (inframe_deletion +1 more)	Chondrodysplasia-pseudohermaphroditism syndrome	GUncertain significance
Select item 2596992	NM_018194.6(HHAT):c.386A>G (p.Gln129Arg)	HHAT (Q129R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105677	NM_018194.6(HHAT):c.391C>T (p.Arg131Trp)	HHAT (R132W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105678	NM_018194.6(HHAT):c.407C>T (p.Thr136Met)	HHAT (T136M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105680	NM_018194.6(HHAT):c.421C>G (p.Leu141Val)	HHAT (L142V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304203	NM_018194.6(HHAT):c.454G>A (p.Val152Met)	HHAT (V153M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537823	NM_018194.6(HHAT):c.463G>A (p.Val155Ile)	HHAT (V155I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105681	NM_018194.6(HHAT):c.470G>C (p.Arg157Thr)	HHAT (R158T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1555889	NM_018194.6(HHAT):c.492C>T (p.Asn164=)	HHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 728722	NM_018194.6(HHAT):c.526C>T (p.Arg176Cys)	HHAT (R111C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1947894	NM_018194.6(HHAT):c.527G>A (p.Arg176His)	HHAT (R176H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1263555	NM_018194.6(HHAT):c.534G>C (p.Leu178=)	HHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3105682	NM_018194.6(HHAT):c.542C>G (p.Thr181Ser)	HHAT (T116S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2882946	NM_018194.6(HHAT):c.543C>A (p.Thr181=)	HHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1587713	NM_018194.6(HHAT):c.545G>A (p.Ser182Asn)	HHAT (S117N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1559146	NM_018194.6(HHAT):c.562T>C (p.Cys188Arg)	HHAT (C123R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3105683	NM_018194.6(HHAT):c.578C>G (p.Pro193Arg)	HHAT (P194R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1512569	NM_018194.6(HHAT):c.587C>T (p.Ser196Leu)	HHAT (S196L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2603284	NM_018194.6(HHAT):c.626T>A (p.Phe209Tyr)	HHAT (F144Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284220	NM_018194.6(HHAT):c.628T>C (p.Tyr210His)	HHAT (Y145H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240818	NM_018194.6(HHAT):c.649G>A (p.Gly217Arg)	HHAT (G152R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2078834	NM_018194.6(HHAT):c.664T>C (p.Phe222Leu)	HHAT (F157L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928877	NM_018194.6(HHAT):c.669G>A (p.Ser223=)	HHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 775661	NM_018194.6(HHAT):c.684+6G>C	HHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718846	NM_018194.6(HHAT):c.684+9C>T	HHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1626225	NM_018194.6(HHAT):c.699G>A (p.Glu233=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744296	NM_018194.6(HHAT):c.741G>A (p.Gly247=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987947	NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)	HHAT (L257P +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia-pseudohermaphroditism syndrome	GPathogenic
Select item 756555	NM_018194.6(HHAT):c.774C>T (p.Ala258=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105685	NM_018194.6(HHAT):c.775G>A (p.Glu259Lys)	HHAT (E194K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2145610	NM_018194.6(HHAT):c.789C>A (p.His263Gln)	HHAT (H264Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1472967	NM_018194.6(HHAT):c.791T>C (p.Leu264Pro)	HHAT (L127P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987946	NM_018194.6(HHAT):c.860G>T (p.Gly287Val)	HHAT (G287V +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia-pseudohermaphroditism syndrome	GPathogenic
Select item 3105686	NM_018194.6(HHAT):c.916G>A (p.Val306Met)	HHAT (V241M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2961660	NM_018194.6(HHAT):c.922G>A (p.Ala308Thr)	HHAT (A309T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3105687	NM_018194.6(HHAT):c.932T>C (p.Met311Thr)	HHAT (M312T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371020	NM_018194.6(HHAT):c.934C>T (p.Arg312Cys)	HHAT (R312C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721005	NM_018194.6(HHAT):c.935G>A (p.Arg312His)	HHAT (R247H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729041	NM_018194.6(HHAT):c.957C>T (p.Pro319=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3284210	NM_018194.6(HHAT):c.965C>T (p.Pro322Leu)	HHAT (P257L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341522	NM_018194.6(HHAT):c.967C>T (p.Arg323Cys)	HHAT (R258C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284218	NM_018194.6(HHAT):c.989G>C (p.Ser330Thr)	HHAT (S330T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731915	NM_018194.6(HHAT):c.996C>T (p.Thr332=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790251	NM_018194.6(HHAT):c.997G>A (p.Gly333Arg)	HHAT (G333R +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia-pseudohermaphroditism syndrome +1 more	GBenign/Likely benign
Select item 1643249	NM_018194.6(HHAT):c.1007+8G>T	HHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1488647	NM_018194.6(HHAT):c.1027C>T (p.His343Tyr)	HHAT (H206Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2460787	NM_018194.6(HHAT):c.1063G>A (p.Gly355Ser)	HHAT (G290S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1637752	NM_018194.6(HHAT):c.1065C>T (p.Gly355=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591782	NM_018194.6(HHAT):c.1098T>G (p.Phe366Leu)	HHAT (F229L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395266	NM_018194.6(HHAT):c.1103C>T (p.Thr368Met)	HHAT (T231M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1518849	NM_018194.6(HHAT):c.1104G>A (p.Thr368=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3016315	NM_018194.6(HHAT):c.1107G>A (p.Ala369=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782083	NM_018194.6(HHAT):c.1112C>T (p.Thr371Ile)	HHAT (T306I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1074202	NM_018194.6(HHAT):c.1134G>A (p.Trp378Ter)	HHAT (W241* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 769256	NM_018194.6(HHAT):c.1146C>T (p.Tyr382=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2293515	NM_018194.6(HHAT):c.1148A>G (p.Asp383Gly)	HHAT (D246G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787222	NM_018194.6(HHAT):c.1167A>G (p.Ala389=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2347915	NM_018194.6(HHAT):c.1169C>T (p.Ala390Val)	HHAT (A390V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1576527	NM_018194.6(HHAT):c.1180C>T (p.Leu394=)	HHAT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1803513	NM_018194.6(HHAT):c.1201G>A (p.Gly401Arg)	HHAT (G264R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350511	NM_018194.6(HHAT):c.1207C>T (p.Arg403Trp)	HHAT (R266W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3284215	NM_018194.6(HHAT):c.1208G>A (p.Arg403Gln)	HHAT (R266Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1639595	NM_018194.6(HHAT):c.1245+19G>C	HHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868092	NM_018194.6(HHAT):c.1246-5dup	HHAT	Duplication (intron variant)	not provided	GLikely benign
Select item 2172012	NM_018194.6(HHAT):c.1250G>A (p.Arg417Gln)	HHAT (R352Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2681147	NM_018194.6(HHAT):c.1270C>T (p.Arg424Cys)	HHAT (R287C +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3284211	NM_018194.6(HHAT):c.1274G>A (p.Arg425His)	HHAT (R360H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284217	NM_018194.6(HHAT):c.1282C>T (p.His428Tyr)	HHAT (H428Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041338	NM_018194.6(HHAT):c.1284C>T (p.His428=)	HHAT	Single nucleotide variant (synonymous variant)	HHAT-related disorder	GLikely benign

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