ClinVar for Gene (Select 92609) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3019404	NM_001001563.5(TIMM50):c.780C>T (p.Asn260=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011557	NM_001001563.5(TIMM50):c.111C>T (p.Ala37=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009246	NM_001001563.5(TIMM50):c.314-14T>C	TIMM50	Single nucleotide variant (intron 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 2996566	NM_001001563.5(TIMM50):c.255C>T (p.Ile85=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995960	NM_001001563.5(TIMM50):c.975C>T (p.Arg325=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995109	NM_001001563.5(TIMM50):c.697-16T>G	TIMM50	Single nucleotide variant (intron variant)	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 2986148	NM_001001563.5(TIMM50):c.259+20C>G	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986130	NM_001001563.5(TIMM50):c.259+14C>A	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985131	NM_001001563.5(TIMM50):c.939G>A (p.Gln313=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980572	NM_001001563.5(TIMM50):c.138T>C (p.Thr46=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978681	NM_001001563.5(TIMM50):c.888C>T (p.Thr296=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976155	NM_001001563.5(TIMM50):c.900C>T (p.His300=)	TIMM50	Single nucleotide variant (synonymous 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 2972246	NM_001001563.3(TIMM50):c.225C>A (p.Leu75=)	TIMM50	Single nucleotide variant (synonymous 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	GUncertain significance
Select item 2963554	NM_001001563.3(TIMM50):c.285C>T (p.Gly95=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961763	NM_001001563.5(TIMM50):c.588G>A (p.Glu196=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959370	NM_001001563.5(TIMM50):c.597+19G>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957888	NM_001001563.5(TIMM50):c.829T>C (p.Leu277=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913744	NM_001001563.3(TIMM50):c.255C>T (p.Gly85=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898574	NM_001001563.5(TIMM50):c.555C>G (p.Ala185=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897048	NM_001001563.3(TIMM50):c.273G>A (p.Arg91=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875869	NM_001001563.5(TIMM50):c.992A>C (p.Lys331Thr)	TIMM50 (K218T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870748	NM_001001563.5(TIMM50):c.853+15T>C	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870339	NM_001001563.5(TIMM50):c.314-13G>C	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869703	NM_001001563.5(TIMM50):c.961-9C>G	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869284	NM_001001563.5(TIMM50):c.337C>T (p.Arg113Cys)	TIMM50 (R113C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868423	NM_001001563.5(TIMM50):c.927G>A (p.Ala309=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864087	NM_001001563.5(TIMM50):c.314-11T>C	TIMM50	Single nucleotide variant (intron 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 2854287	NM_001001563.5(TIMM50):c.186T>C (p.Tyr62=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	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 2838287	NM_001001563.5(TIMM50):c.71C>T (p.Thr24Met)	TIMM50 (T24M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828763	NM_001001563.5(TIMM50):c.318A>C (p.Pro106=)	TIMM50	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2827422	NM_001001563.3(TIMM50):c.258G>A (p.Pro86=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814914	NM_001001563.5(TIMM50):c.1059C>T (p.Pro353=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813568	NM_001001563.3(TIMM50):c.243C>T (p.Gly81=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2798931	NM_001001563.5(TIMM50):c.924G>A (p.Leu308=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795791	NM_001001563.3(TIMM50):c.66C>G (p.Gly22=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795777	NM_001001563.5(TIMM50):c.759C>T (p.Ala253=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794539	NM_001001563.5(TIMM50):c.373-11C>A	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793546	NM_001001563.5(TIMM50):c.313+19A>G	TIMM50	Single nucleotide variant (intron 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 2789586	NM_001001563.5(TIMM50):c.30C>G (p.Arg10=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765657	NM_001001563.5(TIMM50):c.150G>C (p.Gly50=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765516	NM_001001563.5(TIMM50):c.598-16C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759251	NM_001001563.5(TIMM50):c.345A>T (p.Thr115=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713989	NM_001001563.5(TIMM50):c.853+7C>G	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700908	NM_001001563.5(TIMM50):c.314-16C>G	TIMM50	Single nucleotide variant (intron 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 2618594	NM_001001563.5(TIMM50):c.350A>G (p.Lys117Arg)	TIMM50 (K117R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578827	NM_001001563.5(TIMM50):c.108+60A>G	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498779	NM_001001563.5(TIMM50):c.108+20C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 2418379	NM_001001563.5(TIMM50):c.369A>G (p.Arg123=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2414644	NM_001001563.5(TIMM50):c.493-3C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2413491	NM_001001563.3(TIMM50):c.168C>T (p.Ala56=)	TIMM50	Single nucleotide variant (synonymous variant)	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 2328313	NM_001001563.5(TIMM50):c.97G>T (p.Ala33Ser)	TIMM50 (A33S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322723	NM_001001563.5(TIMM50):c.679G>A (p.Asp227Asn)	TIMM50 (D114N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321788	NM_001001563.5(TIMM50):c.686A>G (p.His229Arg)	TIMM50 (H116R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317329	NM_001001563.5(TIMM50):c.974G>A (p.Arg325His)	TIMM50 (R212H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310604	NM_001001563.5(TIMM50):c.691G>A (p.Val231Ile)	TIMM50 (V231I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308320	NM_001001563.5(TIMM50):c.85C>G (p.Pro29Ala)	TIMM50 (P29A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2298676	NM_001001563.3(TIMM50):c.206C>T (p.Ala69Val)	TIMM50 (A69V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288504	NM_001001563.5(TIMM50):c.687C>A (p.His229Gln)	TIMM50 (H229Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2269330	NM_001001563.5(TIMM50):c.776A>G (p.Tyr259Cys)	TIMM50 (Y259C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258982	NM_001001563.5(TIMM50):c.727C>G (p.Arg243Gly)	TIMM50 (R243G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225711	NM_001001563.5(TIMM50):c.277G>A (p.Glu93Lys)	TIMM50 (E93K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213450	NM_001001563.5(TIMM50):c.649C>T (p.Arg217Cys)	TIMM50 (R217C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2185641	NM_001001563.5(TIMM50):c.705A>T (p.Ser235=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183364	NM_001001563.5(TIMM50):c.603G>A (p.Ala201=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178606	NM_001001563.5(TIMM50):c.753G>A (p.Lys251=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178306	NM_001001563.5(TIMM50):c.120C>T (p.Ile40=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177528	NM_001001563.5(TIMM50):c.974G>T (p.Arg325Leu)	TIMM50 (R212L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177166	NM_001001563.5(TIMM50):c.961-9C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2172486	NM_001001563.5(TIMM50):c.761T>A (p.Phe254Tyr)	TIMM50 (F254Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170473	NM_001001563.5(TIMM50):c.40G>A (p.Gly14Arg)	TIMM50 (G14R)	Single nucleotide variant (missense variant +1 more)	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 2150291	NM_001001563.5(TIMM50):c.269C>T (p.Pro90Leu)	TIMM50 (P90L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2149884	NM_001001563.5(TIMM50):c.982G>A (p.Glu328Lys)	TIMM50 (E215K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132853	NM_001001563.5(TIMM50):c.853+14del	TIMM50	Deletion (intron variant)	not provided	GBenign
Select item 2123448	NM_001001563.5(TIMM50):c.144G>T (p.Ala48=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2122732	NM_001001563.5(TIMM50):c.854-17C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122568	NM_001001563.5(TIMM50):c.86C>T (p.Pro29Leu)	TIMM50 (P29L)	Single nucleotide variant (missense variant +1 more)	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 2121509	NM_001001563.5(TIMM50):c.591T>A (p.Thr197=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120501	NM_001001563.3(TIMM50):c.201T>G (p.Ser67=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119899	NM_001001563.5(TIMM50):c.472C>T (p.Leu158Phe)	TIMM50 (L45F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116336	NM_001001563.5(TIMM50):c.696+13C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116067	NM_001001563.3(TIMM50):c.133G>A (p.Gly45Arg)	TIMM50 (G45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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