BHLHA9[gene] and "single gene"[properties] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262831	NM_001164405.2(BHLHA9):c.-68A>G	BHLHA9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2206564	NM_001164405.2(BHLHA9):c.32C>A (p.Thr11Lys)	BHLHA9 (T11K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730614	NM_001164405.2(BHLHA9):c.33G>A (p.Thr11=)	BHLHA9	Single nucleotide variant (synonymous variant)	BHLHA9-related disorder +1 more	GLikely benign
Select item 2395607	NM_001164405.2(BHLHA9):c.42G>T (p.Lys14Asn)	BHLHA9 (K14N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501415	NM_001164405.2(BHLHA9):c.116C>A (p.Ala39Glu)	BHLHA9 (A39E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2853713	NM_001164405.2(BHLHA9):c.126T>G (p.Ala42=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3260848	NM_001164405.2(BHLHA9):c.140G>A (p.Gly47Asp)	BHLHA9 (G47D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306608	NM_001164405.2(BHLHA9):c.140G>T (p.Gly47Val)	BHLHA9 (G47V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745927	NM_001164405.2(BHLHA9):c.153G>A (p.Glu51=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519185	NM_001164405.2(BHLHA9):c.155C>T (p.Pro52Leu)	BHLHA9 (P52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716238	NM_001164405.2(BHLHA9):c.157G>A (p.Ala53Thr)	BHLHA9 (A53T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 162065	NM_001164405.2(BHLHA9):c.211A>G (p.Asn71Asp)	BHLHA9 (N71D)	Single nucleotide variant (missense variant)	Mesoaxial synostotic syndactyly with phalangeal reduction	GPathogenic
Select item 3065871	NM_001164405.2(BHLHA9):c.218G>T (p.Arg73Leu)	BHLHA9 (R73L)	Single nucleotide variant (missense variant)	Mesoaxial synostotic syndactyly with phalangeal reduction	GLikely pathogenic
Select item 162066	NM_001164405.2(BHLHA9):c.218G>C (p.Arg73Pro)	BHLHA9 (R73P)	Single nucleotide variant (missense variant)	Mesoaxial synostotic syndactyly with phalangeal reduction	GLikely pathogenic
Select item 253164	NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu)	BHLHA9	Indel	Camptosynpolydactyly, complex	GLikely pathogenic
Select item 162067	NM_001164405.2(BHLHA9):c.224G>T (p.Arg75Leu)	BHLHA9 (R75L)	Single nucleotide variant (missense variant)	Mesoaxial synostotic syndactyly with phalangeal reduction	GPathogenic
Select item 1185322	NM_001164405.2(BHLHA9):c.237A>G (p.Leu79=)	BHLHA9	Single nucleotide variant (synonymous variant)	Mesoaxial synostotic syndactyly with phalangeal reduction +3 more	GBenign
Select item 1660349	NM_001164405.2(BHLHA9):c.246C>T (p.Asn82=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309911	NM_001164405.2(BHLHA9):c.251C>G (p.Ala84Gly)	BHLHA9 (A84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309816	NM_001164405.2(BHLHA9):c.251C>T (p.Ala84Val)	BHLHA9 (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722865	NM_001164405.2(BHLHA9):c.252C>G (p.Ala84=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425687	NM_001164405.2(BHLHA9):c.292G>A (p.Gly98Ser)	BHLHA9 (G98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2491813	NM_001164405.2(BHLHA9):c.307A>C (p.Lys103Gln)	BHLHA9 (K103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298687	NM_001164405.2(BHLHA9):c.321G>T (p.Leu107=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2544460	NM_001164405.2(BHLHA9):c.326G>A (p.Arg109Lys)	BHLHA9 (R109K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260847	NM_001164405.2(BHLHA9):c.337C>T (p.Arg113Cys)	BHLHA9 (R113C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1379999	NM_001164405.2(BHLHA9):c.344C>T (p.Ala115Val)	BHLHA9 (A115V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479455	NM_001164405.2(BHLHA9):c.386G>A (p.Gly129Glu)	BHLHA9 (G129E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3031978	NM_001164405.2(BHLHA9):c.408C>T (p.Cys136=)	BHLHA9	Single nucleotide variant (synonymous variant)	BHLHA9-related disorder	GLikely benign
Select item 2486718	NM_001164405.2(BHLHA9):c.424C>G (p.Arg142Gly)	BHLHA9 (R142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731193	NM_001164405.2(BHLHA9):c.429G>A (p.Gly143=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362146	NM_001164405.2(BHLHA9):c.430G>A (p.Asp144Asn)	BHLHA9 (D144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404782	NM_001164405.2(BHLHA9):c.439G>T (p.Asp147Tyr)	BHLHA9 (D147Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780387	NM_001164405.2(BHLHA9):c.453C>T (p.Ser151=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616668	NM_001164405.2(BHLHA9):c.462G>A (p.Pro154=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1202456	NM_001164405.2(BHLHA9):c.475A>G (p.Ser159Gly)	BHLHA9 (S159G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917104	NM_001164405.2(BHLHA9):c.481G>A (p.Ala161Thr)	BHLHA9 (A161T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902843	NM_001164405.2(BHLHA9):c.489A>C (p.Pro163=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183680	NM_001164405.2(BHLHA9):c.506C>T (p.Ser169Leu)	BHLHA9 (S169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729198	NM_001164405.2(BHLHA9):c.507G>T (p.Ser169=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2387594	NM_001164405.2(BHLHA9):c.512C>G (p.Pro171Arg)	BHLHA9 (P171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381305	NM_001164405.2(BHLHA9):c.518C>A (p.Ala173Glu)	BHLHA9 (A173E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054667	NM_001164405.2(BHLHA9):c.559C>G (p.Arg187Gly)	BHLHA9 (R187G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3133800	NM_001164405.2(BHLHA9):c.567T>G (p.Ser189Arg)	BHLHA9 (S189R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2038105	NM_001164405.2(BHLHA9):c.576C>T (p.Ala192=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675651	NM_001164405.2(BHLHA9):c.606G>A (p.Gly202=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2468999	NM_001164405.2(BHLHA9):c.608G>T (p.Gly203Val)	BHLHA9 (G203V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323912	NM_001164405.2(BHLHA9):c.616C>T (p.Arg206Cys)	BHLHA9 (R206C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133801	NM_001164405.2(BHLHA9):c.623G>C (p.Cys208Ser)	BHLHA9 (C208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444441	NM_001164405.2(BHLHA9):c.631G>T (p.Ala211Ser)	BHLHA9 (A211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3133802	NM_001164405.2(BHLHA9):c.659C>T (p.Pro220Leu)	BHLHA9 (P220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474521	NM_001164405.2(BHLHA9):c.664G>A (p.Gly222Ser)	BHLHA9 (G222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133804	NM_001164405.2(BHLHA9):c.677C>G (p.Ser226Cys)	BHLHA9 (S226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2987135	NM_001164405.2(BHLHA9):c.696T>C (p.His232=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1193505	NM_001164405.2(BHLHA9):c.*28A>T	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1211211	NM_001164405.2(BHLHA9):c.*168G>A	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1707218	NM_001164405.2(BHLHA9):c.*241G>T	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1215317	NM_001164405.2(BHLHA9):c.*296G>A	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2423904	NC_000017.10:g.(?_1173858)_(1174565_?)dup	BHLHA9	Duplication	not provided	GUncertain significance

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Items: 59