TIMM50[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 412

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1423153	NC_000019.10:g.39480554G>C	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1522796	NC_000019.10:g.39480559A>C	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1446078	NC_000019.10:g.39480570A>G	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2122030	NM_001001563.3(TIMM50):c.31T>C (p.Cys11Arg)	TIMM50 (C11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801300	NM_001001563.3(TIMM50):c.34G>C (p.Asp12His)	TIMM50 (D12H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615565	NC_000019.10:g.39480583C>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2844161	NM_001001563.3(TIMM50):c.42C>T (p.Phe14=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500607	NC_000019.10:g.39480586C>A	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1950131	NM_001001563.3(TIMM50):c.52G>C (p.Val18Leu)	TIMM50 (V18L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464470	NC_000019.10:g.39480596G>A	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1373879	NC_000019.10:g.39480600T>A	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2416482	NM_001001563.3(TIMM50):c.64G>A (p.Gly22Ser)	TIMM50 (G22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795791	NM_001001563.3(TIMM50):c.66C>G (p.Gly22=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073427	NM_001001563.3(TIMM50):c.79C>T (p.Gln27Ter)	TIMM50 (Q27*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2070260	NM_001001563.3(TIMM50):c.83G>A (p.Gly28Asp)	TIMM50 (G28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350827	NC_000019.10:g.39480630C>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1481244	NC_000019.10:g.39480638C>A	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2197472	NM_001001563.3(TIMM50):c.95G>A (p.Arg32His)	TIMM50 (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604261	NC_000019.10:g.39480646A>G	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2790917	NM_001001563.3(TIMM50):c.108C>T (p.Asp36=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659560	NC_000019.10:g.39480654T>C	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2975914	NM_001001563.3(TIMM50):c.114A>G (p.Glu38=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372796	NC_000019.10:g.39480663A>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1430050	NM_001001563.3(TIMM50):c.120G>T (p.Gln40His)	TIMM50 (Q40H)	Single nucleotide variant (missense variant)	TIMM50-related disorder +1 more	GUncertain significance
Select item 1627485	NM_001001563.3(TIMM50):c.121T>C (p.Leu41=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1444537	NC_000019.10:g.39480666T>G	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1514456	NM_001001563.3(TIMM50):c.125C>T (p.Ser42Leu)	TIMM50 (S42L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2116067	NM_001001563.3(TIMM50):c.133G>A (p.Gly45Arg)	TIMM50 (G45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013535	NM_001001563.3(TIMM50):c.139_140insGG (p.Ala47Glyfs)	TIMM50	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2164565	NM_001001563.3(TIMM50):c.142A>T (p.Arg48Trp)	TIMM50 (R48W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405822	NC_000019.10:g.39480686A>G	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1433202	NC_000019.10:g.39480691A>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2104759	NM_001001563.3(TIMM50):c.150A>C (p.Leu50=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998335	NM_001001563.3(TIMM50):c.154A>G (p.Arg52Gly)	TIMM50 (R52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040795	NM_001001563.3(TIMM50):c.164G>A (p.Arg55His)	TIMM50 (R55H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617563	NC_000019.10:g.39480709C>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2413491	NM_001001563.3(TIMM50):c.168C>T (p.Ala56=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912306	NM_001001563.3(TIMM50):c.178C>T (p.Pro60Ser)	TIMM50 (P60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965785	NM_001001563.3(TIMM50):c.179C>T (p.Pro60Leu)	TIMM50 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1585722	NC_000019.10:g.39480724G>C	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2860447	NM_001001563.3(TIMM50):c.183C>G (p.Pro61=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403567	NM_001001563.3(TIMM50):c.188C>T (p.Ala63Val)	TIMM50 (A63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2069712	NM_001001563.3(TIMM50):c.189C>T (p.Ala63=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074579	NM_001001563.3(TIMM50):c.193G>C (p.Gly65Arg)	TIMM50 (G65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369940	NC_000019.10:g.39480737G>A	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2304776	NM_001001563.3(TIMM50):c.194G>C (p.Gly65Ala)	TIMM50 (G65A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377639	NM_001001563.3(TIMM50):c.196C>T (p.Leu66Phe)	TIMM50 (L66F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1464971	NC_000019.10:g.39480743T>C	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2120501	NM_001001563.3(TIMM50):c.201T>G (p.Ser67=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007307	NM_001001563.3(TIMM50):c.203G>A (p.Arg68Gln)	TIMM50 (R68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650741	NC_000019.10:g.39480748G>C	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 1538161	NC_000019.10:g.39480748G>A	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2298676	NM_001001563.3(TIMM50):c.206C>T (p.Ala69Val)	TIMM50 (A69V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050400	NM_001001563.3(TIMM50):c.206_207delCTinsTGGTC (p.Ala69delinsValVal)	TIMM50	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1363297	NC_000019.10:g.39480758C>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1909850	NM_001001563.3(TIMM50):c.215A>G (p.His72Arg)	TIMM50 (H72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568669	NC_000019.10:g.39480760C>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 1166718	NM_001001563.3(TIMM50):c.217C>T (p.Pro73Ser)	TIMM50 (P73S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2083533	NM_001001563.3(TIMM50):c.219G>C (p.Pro73=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644397	NC_000019.10:g.39480763G>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2649838	NM_001001563.3(TIMM50):c.223C>T (p.Leu75Phe)	TIMM50 (L75F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972246	NM_001001563.3(TIMM50):c.225C>A (p.Leu75=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047560	NM_001001563.3(TIMM50):c.225C>T (p.Leu75=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981040	NM_001001563.3(TIMM50):c.228C>T (p.Pro76=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386693	NM_001001563.3(TIMM50):c.232G>A (p.Val78Ile)	TIMM50 (V78I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1428814	NC_000019.10:g.39480778_39480788del	TIMM50	Deletion	not provided	GUncertain significance
Select item 1461189	NC_000019.10:g.39480780C>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2813568	NM_001001563.3(TIMM50):c.243C>T (p.Gly81=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988279	NM_001001563.3(TIMM50):c.244T>C (p.Cys82Arg)	TIMM50 (C82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166484	NM_001001563.3(TIMM50):c.248G>C (p.Ser83Thr)	TIMM50 (S83T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273025	NM_001001563.3(TIMM50):c.251C>T (p.Ser84Phe)	TIMM50 (S84F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1002424	NC_000019.10:g.39480799_39480803del	TIMM50	Deletion	not provided	GUncertain significance
Select item 1571717	NC_000019.10:g.39480796C>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2969253	NM_001001563.3(TIMM50):c.253G>A (p.Gly85Ser)	TIMM50 (G85S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2913744	NM_001001563.3(TIMM50):c.255C>T (p.Gly85=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969414	NM_001001563.3(TIMM50):c.256C>T (p.Pro86Ser)	TIMM50 (P86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026034	NM_001001563.3(TIMM50):c.258_280dup (p.Val94Glyfs)	TIMM50	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1488335	NC_000019.10:g.39480801C>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 2827422	NM_001001563.3(TIMM50):c.258G>A (p.Pro86=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075727	NM_001001563.3(TIMM50):c.259G>C (p.Gly87Arg)	TIMM50 (G87R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993272	NM_001001563.3(TIMM50):c.264G>A (p.Arg88=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923234	NM_001001563.3(TIMM50):c.267G>A (p.Ala89=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112368	NM_001001563.3(TIMM50):c.269A>G (p.Lys90Arg)	TIMM50 (K90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897048	NM_001001563.3(TIMM50):c.273G>A (p.Arg91=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393707	NC_000019.10:g.39480819A>G	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1170043	NC_000019.10:g.39480826G>A	TIMM50	Single nucleotide variant	not provided	GBenign
Select item 2963554	NM_001001563.3(TIMM50):c.285C>T (p.Gly95=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912296	NM_001001563.3(TIMM50):c.288G>C (p.Gly96=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604605	NC_000019.10:g.39480832G>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2004029	NM_001001563.5(TIMM50):c.-10T>A	TIMM50	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1923249	NM_001001563.5(TIMM50):c.-8A>T	TIMM50	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1582100	NM_001001563.5(TIMM50):c.-7G>A	TIMM50	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3001465	NM_001001563.5(TIMM50):c.-5G>A	TIMM50	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1519006	NM_001001563.5(TIMM50):c.11C>T (p.Ser4Leu)	TIMM50 (S4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1913080	NM_001001563.5(TIMM50):c.12G>A (p.Ser4=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994002	NM_001001563.5(TIMM50):c.24C>T (p.Phe8=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2412869	NM_001001563.5(TIMM50):c.26C>T (p.Ser9Leu)	TIMM50 (S9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 780558	NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp)	TIMM50 (S9W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign

<< First< Prev

Page of 5