BHLHA9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	BHLHA9, CRK +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	ABR, ABR-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059934, LOC130059935 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	ABR, ABR-AS1 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148727	GRCh38/hg38 17p13.3(chr17:523549-1311896)x1	ABR, ABR-AS1 +41 more	Copy number loss	See cases	GLikely benign
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	ABR, ABR-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	LOC112529892, ABR +43 more	Copy number gain	See cases	GPathogenic
Select item 57358	GRCh38/hg38 17p13.3(chr17:847955-1589181)x3	ABR, ABR-AS1 +42 more	Copy number gain	See cases	GPathogenic
Select item 59559	GRCh38/hg38 17p13.3(chr17:855404-1345517)x1	ABR, ABR-AS1 +19 more	Copy number loss	See cases	GPathogenic
Select item 153144	GRCh38/hg38 17p13.3(chr17:1005522-1373762)x3	ABR, ABR-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 154912	GRCh38/hg38 17p13.3(chr17:1060457-1332519)x3	ABR, ABR-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	MIR22, MIR22HG +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 154829	GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 152588	GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3	ABR, ABR-AS1 +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 155491	GRCh38/hg38 17p13.3(chr17:1149477-1473293)x3	ABR, ABR-AS1 +16 more	Copy number gain	See cases	GLikely pathogenic
Select item 155705	GRCh38/hg38 17p13.3(chr17:1158140-1373950)x3	ABR, ABR-AS1 +12 more	Copy number gain	See cases	GLikely benign
Select item 58670	GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	CRK, INPP5K +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 157373	NM_001164405.1(BHLHA9):c.-56867_66089del	TRARG1, ABR +5 more	Deletion	Preeclampsia	Gnot provided
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 599191	NC_000017.11:g.1227482_1458196dup	LOC130059874, LOC130059875 +9 more	Duplication	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	RILP, RPA1 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	ABR, BHLHA9 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 57472	GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1	ABR, BHLHA9 +19 more	Copy number loss	See cases	GPathogenic
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)	not provided +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 provided +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 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	GLikely benign
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)	Camptosynpolydactyly, complex +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)	not provided	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 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 condition	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 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 1444441	NM_001164405.2(BHLHA9):c.631G>T (p.Ala211Ser)	BHLHA9 (A211S)	Single nucleotide variant (missense variant)	not provided	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 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 3063528	GRCh37/hg19 17p13.3(chr17:1165433-1225940)x1	BHLHA9, TRARG1	Copy number loss	not specified	GUncertain significance
Select item 3063523	GRCh37/hg19 17p13.3(chr17:1121817-1264198)x3	BHLHA9, TRARG1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063518	GRCh37/hg19 17p13.3(chr17:1070465-1413071)x1	ABR, BHLHA9 +5 more	Copy number loss	not specified	GPathogenic

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