ClinVar for Gene (Select 9882) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355673	NM_014832.5(TBC1D4):c.3745C>T (p.Arg1249Trp)	TBC1D4 (R1186W +2 more)	Single nucleotide variant (missense variant)	TBC1D4-related disorder	GUncertain significance
Select item 3353335	NM_014832.5(TBC1D4):c.1267G>A (p.Glu423Lys)	TBC1D4 (E423K)	Single nucleotide variant (missense variant)	TBC1D4-related disorder	GUncertain significance
Select item 3324727	NM_014832.5(TBC1D4):c.307G>C (p.Gly103Arg)	TBC1D4 (G103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324726	NM_014832.5(TBC1D4):c.110G>A (p.Arg37Gln)	TBC1D4 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324725	NM_014832.5(TBC1D4):c.679G>C (p.Glu227Gln)	TBC1D4 (E227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324724	NM_014832.5(TBC1D4):c.82C>T (p.Pro28Ser)	TBC1D4 (P28S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324723	NM_014832.5(TBC1D4):c.28G>A (p.Glu10Lys)	TBC1D4 (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324722	NM_014832.5(TBC1D4):c.725A>G (p.Glu242Gly)	TBC1D4 (E242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324721	NM_014832.5(TBC1D4):c.351C>A (p.Phe117Leu)	TBC1D4 (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324720	NM_014832.5(TBC1D4):c.2597G>A (p.Ser866Asn)	TBC1D4 (S858N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324719	NM_014832.5(TBC1D4):c.696C>G (p.His232Gln)	TBC1D4 (H232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324718	NM_014832.5(TBC1D4):c.1921C>T (p.His641Tyr)	LOC126861801, TBC1D4 (H641Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324717	NM_014832.5(TBC1D4):c.1609T>C (p.Ser537Pro)	TBC1D4 (S537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324716	NM_014832.5(TBC1D4):c.3343G>A (p.Val1115Ile)	TBC1D4 (V1107I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324715	NM_014832.5(TBC1D4):c.177G>A (p.Met59Ile)	TBC1D4 (M59I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324714	NM_014832.5(TBC1D4):c.707G>C (p.Arg236Pro)	TBC1D4 (R236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324713	NM_014832.5(TBC1D4):c.1004C>T (p.Pro335Leu)	TBC1D4 (P335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174676	NM_014832.5(TBC1D4):c.860C>T (p.Pro287Leu)	TBC1D4 (P287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174675	NM_014832.5(TBC1D4):c.829C>T (p.His277Tyr)	TBC1D4 (H277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174674	NM_014832.5(TBC1D4):c.826A>G (p.Thr276Ala)	TBC1D4 (T276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174673	NM_014832.5(TBC1D4):c.805G>A (p.Glu269Lys)	TBC1D4 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174672	NM_014832.5(TBC1D4):c.733G>A (p.Gly245Ser)	TBC1D4 (G245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174671	NM_014832.5(TBC1D4):c.47T>G (p.Leu16Arg)	TBC1D4 (L16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174670	NM_014832.5(TBC1D4):c.3835C>G (p.Leu1279Val)	TBC1D4 (L1216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174668	NM_014832.5(TBC1D4):c.3228T>A (p.Asn1076Lys)	TBC1D4 (N1013K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174667	NM_014832.5(TBC1D4):c.3148T>C (p.Ser1050Pro)	TBC1D4 (S1050P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174666	NM_014832.5(TBC1D4):c.2803T>C (p.Tyr935His)	TBC1D4 (Y935H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174665	NM_014832.5(TBC1D4):c.2438A>G (p.Glu813Gly)	TBC1D4 (E805G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174664	NM_014832.5(TBC1D4):c.2378A>G (p.Gln793Arg)	TBC1D4 (Q730R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174663	NM_014832.5(TBC1D4):c.2167A>G (p.Arg723Gly)	TBC1D4 (R723G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174662	NM_014832.5(TBC1D4):c.2041T>G (p.Ser681Ala)	TBC1D4 (S681A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174660	NM_014832.5(TBC1D4):c.1741A>G (p.Arg581Gly)	TBC1D4 (R581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174659	NM_014832.5(TBC1D4):c.1691A>G (p.Lys564Arg)	TBC1D4 (K564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174658	NM_014832.5(TBC1D4):c.1483A>G (p.Ile495Val)	TBC1D4 (I495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174657	NM_014832.5(TBC1D4):c.1379C>A (p.Ser460Tyr)	TBC1D4 (S460Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174656	NM_014832.5(TBC1D4):c.1364C>T (p.Ala455Val)	TBC1D4 (A455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174655	NM_014832.5(TBC1D4):c.1034A>C (p.His345Pro)	TBC1D4 (H345P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3057756	NM_014832.5(TBC1D4):c.3391A>G (p.Ile1131Val)	TBC1D4 (I1068V +2 more)	Single nucleotide variant (missense variant)	TBC1D4-related disorder	GLikely benign
Select item 3055010	NM_014832.5(TBC1D4):c.1276-4G>T	TBC1D4	Single nucleotide variant (intron variant)	TBC1D4-related disorder	GLikely benign
Select item 3049351	NM_014832.5(TBC1D4):c.1807-9G>C	LOC126861801, TBC1D4	Single nucleotide variant (intron variant)	TBC1D4-related disorder	GLikely benign
Select item 3040012	NM_014832.5(TBC1D4):c.738G>A (p.Pro246=)	TBC1D4	Single nucleotide variant (synonymous variant)	TBC1D4-related disorder	GLikely benign
Select item 3034087	NM_014832.5(TBC1D4):c.2147G>A (p.Ser716Asn)	TBC1D4 (S716N)	Single nucleotide variant (missense variant +1 more)	TBC1D4-related disorder	GBenign
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2685472	GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1	BORA, COMMD6 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2634636	NM_014832.5(TBC1D4):c.238C>G (p.Arg80Gly)	TBC1D4 (R80G)	Single nucleotide variant (missense variant)	TBC1D4-related disorder	GUncertain significance
Select item 2630444	NM_014832.5(TBC1D4):c.2T>A (p.Met1Lys)	TBC1D4 (M1K)	Single nucleotide variant (missense variant +1 more)	TBC1D4-related disorder	GUncertain significance
Select item 2617710	NM_014832.5(TBC1D4):c.620G>T (p.Cys207Phe)	TBC1D4 (C207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610972	NM_014832.5(TBC1D4):c.848G>C (p.Gly283Ala)	TBC1D4 (G283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550766	NM_014832.5(TBC1D4):c.3111C>A (p.Asp1037Glu)	TBC1D4 (D1037E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540765	NM_014832.5(TBC1D4):c.85G>A (p.Gly29Arg)	TBC1D4 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537204	NM_014832.5(TBC1D4):c.46C>A (p.Leu16Met)	TBC1D4 (L16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524428	NM_014832.5(TBC1D4):c.1088G>A (p.Arg363Gln)	TBC1D4 (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519406	NM_014832.5(TBC1D4):c.583G>A (p.Ala195Thr)	TBC1D4 (A195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513634	NM_014832.5(TBC1D4):c.3031A>T (p.Ile1011Phe)	TBC1D4 (I1011F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508780	NM_014832.5(TBC1D4):c.125G>A (p.Gly42Glu)	TBC1D4 (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495290	NM_014832.5(TBC1D4):c.2366C>T (p.Ser789Leu)	TBC1D4 (S781L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491696	NM_014832.5(TBC1D4):c.2042C>T (p.Ser681Leu)	TBC1D4 (S681L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482314	NM_014832.5(TBC1D4):c.2357A>G (p.Lys786Arg)	TBC1D4 (K723R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473085	NM_014832.5(TBC1D4):c.374A>G (p.His125Arg)	TBC1D4 (H125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472135	NM_014832.5(TBC1D4):c.1343C>T (p.Thr448Met)	TBC1D4 (T448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470741	NM_014832.5(TBC1D4):c.2351T>C (p.Met784Thr)	TBC1D4 (M776T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468301	NM_014832.5(TBC1D4):c.2842C>T (p.Pro948Ser)	TBC1D4 (P948S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464759	NM_014832.5(TBC1D4):c.2176C>G (p.Pro726Ala)	TBC1D4 (P726A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398040	NM_014832.5(TBC1D4):c.166C>T (p.Pro56Ser)	TBC1D4 (P56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385209	NM_014832.5(TBC1D4):c.341C>T (p.Pro114Leu)	TBC1D4 (P114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367493	NM_014832.5(TBC1D4):c.736C>G (p.Pro246Ala)	TBC1D4 (P246A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347270	NM_014832.5(TBC1D4):c.1207C>T (p.Arg403Trp)	TBC1D4 (R403W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343097	NM_014832.5(TBC1D4):c.1595T>G (p.Ile532Ser)	TBC1D4 (I532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316469	NM_014832.5(TBC1D4):c.1490A>G (p.Glu497Gly)	TBC1D4 (E497G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296733	NM_014832.5(TBC1D4):c.515G>A (p.Ser172Asn)	TBC1D4 (S172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285913	NM_014832.5(TBC1D4):c.815A>T (p.Asp272Val)	TBC1D4 (D272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280158	NM_014832.5(TBC1D4):c.413A>C (p.Tyr138Ser)	TBC1D4 (Y138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262582	NM_014832.5(TBC1D4):c.2905G>A (p.Asp969Asn)	TBC1D4 (D969N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246959	NM_014832.5(TBC1D4):c.2431A>C (p.Thr811Pro)	TBC1D4 (T803P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245697	NM_014832.5(TBC1D4):c.481G>A (p.Ala161Thr)	TBC1D4 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235284	NM_014832.5(TBC1D4):c.2210C>G (p.Ala737Gly)	TBC1D4 (A737G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232640	NM_014832.5(TBC1D4):c.380C>G (p.Ser127Trp)	TBC1D4 (S127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219800	NM_014832.5(TBC1D4):c.2459T>G (p.Phe820Cys)	TBC1D4 (F812C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212314	NM_014832.5(TBC1D4):c.1319C>T (p.Ala440Val)	TBC1D4 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809449	GRCh37/hg19 13q22.1-22.3(chr13:73600015-77624907)x1	ACOD1, CLN5 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1807861	GRCh37/hg19 13q22.2(chr13:75822317-76275317)x4	COMMD6, LMO7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527784	GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831)	KCTD12, NDFIP2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1337045	NM_014832.5(TBC1D4):c.492C>T (p.Pro164=)	TBC1D4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance

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