55151[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 218

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	LOC130002266, LOC130002267 +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 155197	GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	ABCA1, CT70 +58 more	Copy number gain	See cases	GUncertain significance
Select item 152170	GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	ABCA1, CT70 +56 more	Copy number gain	See cases	GUncertain significance
Select item 1291805	NC_000009.12:g.105694295A>G	TMEM38B	Single nucleotide variant	not provided	GBenign
Select item 1239119	NC_000009.12:g.105694305A>G	TMEM38B	Single nucleotide variant	not provided	GBenign
Select item 1288412	NC_000009.12:g.105694445G>C	LOC130002290, TMEM38B	Single nucleotide variant	not provided	GBenign
Select item 1187186	NC_000009.12:g.105694471G>T	LOC130002290, TMEM38B	Single nucleotide variant	not provided	GLikely benign
Select item 1271405	NM_018112.3(TMEM38B):c.-54A>C	LOC130002290, TMEM38B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1696355	NM_018112.3(TMEM38B):c.-10G>A	TMEM38B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1963687	NM_018112.3(TMEM38B):c.2T>C (p.Met1Thr)	TMEM38B (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429269	NM_018112.3(TMEM38B):c.3G>A (p.Met1Ile)	TMEM38B (M1I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528197	NM_018112.3(TMEM38B):c.5A>C (p.Asp2Ala)	TMEM38B (D2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2988606	NM_018112.3(TMEM38B):c.15G>A (p.Trp5Ter)	TMEM38B (W5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2013757	NM_018112.3(TMEM38B):c.33C>G (p.Ala11=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470142	NM_018112.3(TMEM38B):c.37T>C (p.Ser13Pro)	TMEM38B (S13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501511	NM_018112.3(TMEM38B):c.38C>T (p.Ser13Phe)	TMEM38B (S13F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1050400	NM_018112.3(TMEM38B):c.43A>C (p.Thr15Pro)	TMEM38B (T15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628208	NM_018112.3(TMEM38B):c.72G>A (p.Ala24=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467085	NM_018112.3(TMEM38B):c.86C>T (p.Ser29Leu)	TMEM38B (S29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510862	NM_018112.3(TMEM38B):c.95C>A (p.Ala32Glu)	TMEM38B (A32E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2289024	NM_018112.3(TMEM38B):c.103C>A (p.Arg35Ser)	TMEM38B (R35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1486796	NM_018112.3(TMEM38B):c.112G>A (p.Gly38Arg)	TMEM38B (G38R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632784	NM_018112.3(TMEM38B):c.112+10G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745969	NM_018112.3(TMEM38B):c.112+14G>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200068	NM_018112.3(TMEM38B):c.112+83C>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669656	NM_018112.3(TMEM38B):c.112+302G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235373	NM_018112.3(TMEM38B):c.113-321G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669658	NM_018112.3(TMEM38B):c.113-271A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306337	NM_018112.3(TMEM38B):c.113-37T>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261597	NM_018112.3(TMEM38B):c.113-28C>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713913	NM_018112.3(TMEM38B):c.113-7A>G	TMEM38B	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 1448615	NM_018112.3(TMEM38B):c.128C>T (p.Ala43Val)	TMEM38B (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1925318	NM_018112.3(TMEM38B):c.129A>G (p.Ala43=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429703	NM_018112.3(TMEM38B):c.134A>G (p.Lys45Arg)	TMEM38B (K45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931695	NM_018112.3(TMEM38B):c.141T>C (p.Pro47=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972209	NM_018112.3(TMEM38B):c.153G>T (p.Trp51Cys)	TMEM38B (W51C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698585	NM_018112.3(TMEM38B):c.158C>G (p.Thr53Ser)	TMEM38B (T53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500725	NM_018112.3(TMEM38B):c.163A>G (p.Met55Val)	TMEM38B (M55V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1373366	NM_018112.3(TMEM38B):c.166C>T (p.Leu56Phe)	TMEM38B (L56F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302794	NM_018112.3(TMEM38B):c.169C>T (p.His57Tyr)	TMEM38B (H57Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539871	NM_018112.3(TMEM38B):c.179G>T (p.Gly60Val)	TMEM38B (G60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2811190	NM_018112.3(TMEM38B):c.184G>A (p.Gly62Arg)	TMEM38B (G62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065239	NM_018112.3(TMEM38B):c.185G>A (p.Gly62Glu)	TMEM38B (G62E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790620	NM_018112.3(TMEM38B):c.195C>T (p.Ser65=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2029982	NM_018112.3(TMEM38B):c.210A>G (p.Ala70=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336083	NM_018112.3(TMEM38B):c.218C>T (p.Pro73Leu)	TMEM38B (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1661672	NM_018112.3(TMEM38B):c.220T>C (p.Leu74=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116996	NM_018112.3(TMEM38B):c.237C>A (p.Asn79Lys)	TMEM38B (N79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835777	NM_018112.3(TMEM38B):c.253C>T (p.Leu85=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897328	NM_018112.3(TMEM38B):c.258A>G (p.Ala86=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671830	NM_018112.3(TMEM38B):c.269+14A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674963	NM_018112.3(TMEM38B):c.269+95C>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214097	NM_018112.3(TMEM38B):c.269+196G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267531	NM_018112.3(TMEM38B):c.269+235C>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669660	NM_018112.3(TMEM38B):c.270-229G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233470	NM_018112.3(TMEM38B):c.270-77G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925655	NM_018112.3(TMEM38B):c.270-19G>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896033	NM_018112.3(TMEM38B):c.270-9C>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585807	NM_018112.3(TMEM38B):c.270-4T>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1410529	NM_018112.3(TMEM38B):c.274A>G (p.Ile92Val)	TMEM38B (I92V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068647	NM_018112.3(TMEM38B):c.290C>T (p.Pro97Leu)	TMEM38B (P97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077559	NM_018112.3(TMEM38B):c.291G>A (p.Pro97=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327299	NM_018112.3(TMEM38B):c.300A>G (p.Leu100=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3179446	NM_018112.3(TMEM38B):c.301G>C (p.Val101Leu)	TMEM38B (V101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1958032	NM_018112.3(TMEM38B):c.311G>T (p.Gly104Val)	TMEM38B (G104V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696354	NM_018112.3(TMEM38B):c.319T>C (p.Tyr107His)	TMEM38B (Y107H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1672506	NM_018112.3(TMEM38B):c.324A>G (p.Leu108=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784416	NM_018112.3(TMEM38B):c.331C>T (p.Gln111Ter)	TMEM38B (Q111*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 753599	NM_018112.3(TMEM38B):c.334C>T (p.Leu112=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082548	NM_018112.3(TMEM38B):c.335T>C (p.Leu112Pro)	TMEM38B (L112P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 737932	NM_018112.3(TMEM38B):c.336A>C (p.Leu112=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702068	NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val)	TMEM38B (A114V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2917999	NM_018112.3(TMEM38B):c.344C>T (p.Ser115Leu)	TMEM38B (S115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1503864	NM_018112.3(TMEM38B):c.345G>A (p.Ser115=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494557	NM_018112.3(TMEM38B):c.374A>G (p.Lys125Arg)	TMEM38B (K125R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1394362	NM_018112.3(TMEM38B):c.382G>A (p.Gly128Ser)	TMEM38B (G128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702069	NM_018112.3(TMEM38B):c.390C>A (p.Val130=)	TMEM38B	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1935126	NM_018112.3(TMEM38B):c.392C>T (p.Thr131Ile)	TMEM38B (T131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698038	NM_018112.3(TMEM38B):c.408T>G (p.Tyr136Ter)	TMEM38B (Y136*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1350418	NM_018112.3(TMEM38B):c.412A>G (p.Lys138Glu)	TMEM38B (K138E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513088	NM_018112.3(TMEM38B):c.417T>C (p.Asn139=)	TMEM38B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1384570	NM_018112.3(TMEM38B):c.419G>A (p.Gly140Asp)	TMEM38B (G140D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3