23656[HGNC] - ClinVar - NCBI

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	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	NC_000019.10:g.39480575T>C	TIMM50 (C11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801300	NC_000019.10:g.39480578G>C	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	NC_000019.10:g.39480586C>T	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	NC_000019.10:g.39480596G>C	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	NC_000019.10:g.39480608G>A	TIMM50 (G22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795791	NC_000019.10:g.39480610C>G	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073427	NC_000019.10:g.39480623C>T	TIMM50 (Q27*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2070260	NC_000019.10:g.39480627G>A	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	NC_000019.10:g.39480639G>A	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	NC_000019.10:g.39480652C>T	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	NC_000019.10:g.39480658A>G	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	NC_000019.10:g.39480664G>T	TIMM50 (Q40H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1627485	NC_000019.10:g.39480665T>C	TIMM50	Single nucleotide variant (synonymous variant)	not provided	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	NC_000019.10:g.39480677G>A	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	NC_000019.10:g.39480686A>T	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	NC_000019.10:g.39480694A>C	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998335	NC_000019.10:g.39480698A>G	TIMM50 (R52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040795	NC_000019.10:g.39480708G>A	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	NC_000019.10:g.39480712C>T	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912306	NC_000019.10:g.39480722C>T	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)	not provided +1 more	GUncertain significance
Select item 1585722	NC_000019.10:g.39480724G>C	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2860447	NC_000019.10:g.39480727C>G	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	NC_000019.10:g.39480733C>T	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074579	NC_000019.10:g.39480737G>C	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	NC_000019.10:g.39480745T>G	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007307	NC_000019.10:g.39480747G>A	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	NC_000019.10:g.39480750_39480751delinsTGGTC	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	NC_000019.10:g.39480759A>G	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	NC_000019.10:g.39480761C>T	TIMM50 (P73S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2083533	NC_000019.10:g.39480763G>C	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	NC_000019.10:g.39480769C>A	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047560	NC_000019.10:g.39480769C>T	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981040	NC_000019.10:g.39480772C>T	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)	not provided +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	NC_000019.10:g.39480787C>T	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988279	NC_000019.10:g.39480788T>C	TIMM50 (C82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166484	NC_000019.10:g.39480792G>C	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2913744	NC_000019.10:g.39480799C>T	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969414	NC_000019.10:g.39480800C>T	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	NC_000019.10:g.39480802G>A	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075727	NC_000019.10:g.39480803G>C	TIMM50 (G87R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993272	NC_000019.10:g.39480808G>A	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923234	NC_000019.10:g.39480811G>A	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112368	NC_000019.10:g.39480813A>G	TIMM50 (K90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897048	NC_000019.10:g.39480817G>A	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	NC_000019.10:g.39480829C>T	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912296	NC_000019.10:g.39480832G>C	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 +1 more	GBenign/Likely benign

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