ClinVar for Gene (Select 727857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 3063516	GRCh37/hg19 17p13.3(chr17:1165481-1225940)x1	BHLHA9, TRARG1	Copy number loss	not specified	GUncertain significance
Select item 3063505	GRCh37/hg19 17p13.3(chr17:1041646-1305005)x3	ABR, BHLHA9 +2 more	Copy number gain	not specified	GPathogenic
Select item 3063500	GRCh37/hg19 17p13.3(chr17:1036474-1277162)x3	ABR, BHLHA9 +2 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063491	GRCh37/hg19 17p13.3(chr17:1165481-1305567)x1	BHLHA9, TRARG1 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063489	GRCh37/hg19 17p13.3(chr17:1139864-1703566)x3	BHLHA9, CRK +15 more	Copy number gain	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
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 2987135	NM_001164405.2(BHLHA9):c.696T>C (p.His232=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902843	NM_001164405.2(BHLHA9):c.489A>C (p.Pro163=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2722865	NM_001164405.2(BHLHA9):c.252C>G (p.Ala84=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2685056	GRCh37/hg19 17p13.3(chr17:1036887-1249924)x4	ABR, BHLHA9 +2 more	Copy number gain	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	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 2544460	NM_001164405.2(BHLHA9):c.326G>A (p.Arg109Lys)	BHLHA9 (R109K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2486718	NM_001164405.2(BHLHA9):c.424C>G (p.Arg142Gly)	BHLHA9 (R142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2474521	NM_001164405.2(BHLHA9):c.664G>A (p.Gly222Ser)	BHLHA9 (G222S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	HIC1, GEMIN4 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	TIMM22, GEMIN4 +26 more	Deletion	not provided	GPathogenic
Select item 2426763	NC_000017.10:g.(?_882539)_(1387567_?)del	ABR, BHLHA9 +6 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	INPP5K, MIR22 +22 more	Deletion	not provided	GUncertain significance
Select item 2423904	NC_000017.10:g.(?_1173858)_(1174565_?)dup	BHLHA9	Duplication	not provided	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 2395607	NM_001164405.2(BHLHA9):c.42G>T (p.Lys14Asn)	BHLHA9 (K14N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2362146	NM_001164405.2(BHLHA9):c.430G>A (p.Asp144Asn)	BHLHA9 (D144N)	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 2206564	NM_001164405.2(BHLHA9):c.32C>A (p.Thr11Lys)	BHLHA9 (T11K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1917104	NM_001164405.2(BHLHA9):c.481G>A (p.Ala161Thr)	BHLHA9 (A161T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1807803	GRCh37/hg19 17p13.3(chr17:1070609-1281546)x3	ABR, BHLHA9 +2 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1707218	NM_001164405.2(BHLHA9):c.*241G>T	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1695397	Single allele	BHLHA9, TRARG1	Duplication	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 1695391	Single allele	BHLHA9, TRARG1	Duplication	Gollop-Wolfgang complex	GPathogenic
Select item 1675651	NM_001164405.2(BHLHA9):c.606G>A (p.Gly202=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660349	NM_001164405.2(BHLHA9):c.246C>T (p.Asn82=)	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 1526559	GRCh37/hg19 17p13.3(chr17:1147903-1234046)	BHLHA9, TRARG1	Copy number loss	not specified	GUncertain significance
Select item 1526558	GRCh37/hg19 17p13.3(chr17:764104-1193070)	ABR, BHLHA9 +3 more	Copy number loss	not specified	GUncertain significance
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 1444441	NM_001164405.2(BHLHA9):c.631G>T (p.Ala211Ser)	BHLHA9 (A211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	MYO1C, NXN +17 more	Duplication	not provided	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 1379999	NM_001164405.2(BHLHA9):c.344C>T (p.Ala115Val)	BHLHA9 (A115V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340108	GRCh37/hg19 17p13.3(chr17:858365-1690452)x3	ABR, BHLHA9 +18 more	Copy number gain	not provided	GPathogenic
Select item 1339819	GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3	ABR, BHLHA9 +10 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	Gnot provided
Select item 1328439	GRCh37/hg19 17p13.3(chr17:1145231-1499243)x1	BHLHA9, CRK +6 more	Copy number loss	not provided	GPathogenic
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 1306608	NM_001164405.2(BHLHA9):c.140G>T (p.Gly47Val)	BHLHA9 (G47V)	Single nucleotide variant (missense variant)	not provided	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 1262831	NM_001164405.2(BHLHA9):c.-68A>G	BHLHA9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1215317	NM_001164405.2(BHLHA9):c.*296G>A	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 1202456	NM_001164405.2(BHLHA9):c.475A>G (p.Ser159Gly)	BHLHA9 (S159G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193505	NM_001164405.2(BHLHA9):c.*28A>T	BHLHA9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 988932	GRCh37/hg19 17p13.3(chr17:722145-1875784)x1	TIMM22, TLCD2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 980147	GRCh37/hg19 17p13.3(chr17:525-1450120)x1	ABR, BHLHA9 +17 more	Copy number loss	not provided	GPathogenic
Select item 980146	GRCh37/hg19 17p13.3(chr17:998888-1457526)x3	CRK, TRARG1 +6 more	Copy number gain	not provided	GPathogenic
Select item 980145	GRCh37/hg19 17p13.3(chr17:1121817-1277056)x3	BHLHA9, TRARG1 +1 more	Copy number gain	not provided	GLikely pathogenic
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 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	CRK, INPP5K +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 816550	GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3	ABR, BHLHA9 +16 more	Copy number gain	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 808339	GRCh37/hg19 17p13.3(chr17:882559-1401416)x1	CRK, INPP5K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 780387	NM_001164405.2(BHLHA9):c.453C>T (p.Ser151=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745927	NM_001164405.2(BHLHA9):c.153G>A (p.Glu51=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731193	NM_001164405.2(BHLHA9):c.429G>A (p.Gly143=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 729198	NM_001164405.2(BHLHA9):c.507G>T (p.Ser169=)	BHLHA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688506	GRCh37/hg19 17p13.3(chr17:1103339-1277056)x3	BHLHA9, TRARG1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688124	GRCh37/hg19 17p13.3(chr17:1124664-1264198)x3	BHLHA9, TRARG1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686486	GRCh37/hg19 17p13.3(chr17:55804-1310807)x1	NXN, RFLNB +12 more	Copy number loss	not provided	GUncertain significance
Select item 685182	GRCh37/hg19 17p13.3(chr17:525-1225474)x1	ABR, BHLHA9 +12 more	Copy number loss	not provided	GUncertain significance
Select item 625580	GRCh37/hg19 17p13.3(chr17:1084016-1278527)	TRARG1, ABR +2 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 625579	GRCh37/hg19 17p13.3(chr17:1012244-1218113)	ABR, BHLHA9 +1 more	Copy number gain	not provided	GPathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 599191	NC_000017.11:g.1227482_1458196dup	LOC130059874, LOC130059875 +9 more	Duplication	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 564384	GRCh37/hg19 17p13.3(chr17:1036886-1270757)x3	TRARG1, BHLHA9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564379	GRCh37/hg19 17p13.3(chr17:141235-1227927)x3	ABR, BHLHA9 +11 more	Copy number gain	not provided	GPathogenic

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