ClinVar for Gene (Select 221322) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324711	NM_152730.6(TBC1D32):c.662C>T (p.Ser221Phe)	TBC1D32 (S221F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324710	NM_152730.6(TBC1D32):c.66C>G (p.Ser22Arg)	TBC1D32 (S22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324709	NM_152730.6(TBC1D32):c.2065G>T (p.Ala689Ser)	TBC1D32 (A689S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324708	NM_152730.6(TBC1D32):c.1933A>G (p.Lys645Glu)	TBC1D32 (K645E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324707	NM_152730.6(TBC1D32):c.2984C>A (p.Ala995Asp)	TBC1D32 (A995D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324706	NM_152730.6(TBC1D32):c.62A>G (p.Gln21Arg)	TBC1D32 (Q21R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324705	NM_152730.6(TBC1D32):c.3212C>T (p.Ser1071Phe)	TBC1D32 (S1112F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324704	NM_152730.6(TBC1D32):c.2332C>A (p.Pro778Thr)	TBC1D32 (P778T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324703	NM_152730.6(TBC1D32):c.2308A>G (p.Arg770Gly)	TBC1D32 (R770G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253509	NM_152730.6(TBC1D32):c.2134A>G (p.Asn712Asp)	TBC1D32 (N712D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3220914	NM_152730.6(TBC1D32):c.3724C>T (p.Arg1242Ter)	TBC1D32 (R1242* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 36	GLikely pathogenic
Select item 3174653	NM_152730.6(TBC1D32):c.943G>C (p.Glu315Gln)	TBC1D32 (E315Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174652	NM_152730.6(TBC1D32):c.887A>G (p.Asn296Ser)	TBC1D32 (N296S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174651	NM_152730.6(TBC1D32):c.644G>A (p.Cys215Tyr)	TBC1D32 (C215Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174650	NM_152730.6(TBC1D32):c.491A>G (p.Asn164Ser)	TBC1D32 (N164S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174649	NM_152730.6(TBC1D32):c.383A>G (p.Lys128Arg)	TBC1D32 (K128R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174648	NM_152730.6(TBC1D32):c.3253T>C (p.Phe1085Leu)	TBC1D32 (F1085L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3174647	NM_152730.6(TBC1D32):c.3190G>A (p.Ala1064Thr)	TBC1D32 (A1064T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3174646	NM_152730.6(TBC1D32):c.3064T>G (p.Phe1022Val)	TBC1D32 (F1022V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174645	NM_152730.6(TBC1D32):c.2650C>G (p.Arg884Gly)	TBC1D32 (R884G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174644	NM_152730.6(TBC1D32):c.2465T>C (p.Val822Ala)	TBC1D32 (V822A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174643	NM_152730.6(TBC1D32):c.2225G>T (p.Gly742Val)	TBC1D32 (G742V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174642	NM_152730.6(TBC1D32):c.2222G>A (p.Gly741Asp)	TBC1D32 (G741D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174641	NM_152730.6(TBC1D32):c.2123C>T (p.Thr708Ile)	TBC1D32 (T708I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174640	NM_152730.6(TBC1D32):c.1912T>A (p.Ser638Thr)	TBC1D32 (S638T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174639	NM_152730.6(TBC1D32):c.1853G>A (p.Arg618His)	TBC1D32 (R618H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174638	NM_152730.6(TBC1D32):c.1768A>G (p.Lys590Glu)	TBC1D32 (K590E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174637	NM_152730.6(TBC1D32):c.166G>A (p.Val56Met)	TBC1D32 (V56M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174636	NM_152730.6(TBC1D32):c.1561A>T (p.Ile521Leu)	TBC1D32 (I521L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174635	NM_152730.6(TBC1D32):c.1387A>G (p.Ile463Val)	TBC1D32 (I463V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3174634	NM_152730.6(TBC1D32):c.1382C>G (p.Ser461Cys)	TBC1D32 (S461C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174633	NM_152730.6(TBC1D32):c.1277A>G (p.Tyr426Cys)	TBC1D32 (Y426C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174632	NM_152730.6(TBC1D32):c.1069A>C (p.Lys357Gln)	TBC1D32 (K357Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174631	NM_152730.6(TBC1D32):c.1025C>T (p.Pro342Leu)	TBC1D32 (P342L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062892	GRCh37/hg19 6q22.31(chr6:121302768-121518788)x1	TBC1D32	Copy number loss	not specified	GUncertain significance
Select item 3062022	NM_152730.6(TBC1D32):c.769+5G>A	TBC1D32	Single nucleotide variant (intron variant)	Orofaciodigital syndrome IX	GUncertain significance
Select item 3054658	NM_152730.6(TBC1D32):c.1733+8C>G	TBC1D32	Single nucleotide variant (intron variant)	TBC1D32-related disorder	GLikely benign
Select item 3032121	NM_152730.6(TBC1D32):c.3575T>G (p.Ile1192Ser)	TBC1D32 (I1192S +1 more)	Single nucleotide variant (missense variant +1 more)	TBC1D32-related disorder	GLikely benign
Select item 3021327	NM_152730.6(TBC1D32):c.976A>G (p.Thr326Ala)	TBC1D32 (T326A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020889	NM_152730.6(TBC1D32):c.19G>A (p.Glu7Lys)	LOC129997089, TBC1D32 (E7K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010725	NM_152730.6(TBC1D32):c.660G>A (p.Val220=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995339	NM_152730.6(TBC1D32):c.691-5C>T	TBC1D32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978364	NM_152730.6(TBC1D32):c.2956T>C (p.Cys986Arg)	TBC1D32 (C1027R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973334	NM_152730.6(TBC1D32):c.922C>T (p.Arg308Cys)	TBC1D32 (R308C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957961	NM_152730.6(TBC1D32):c.795_798del (p.Ser266fs)	TBC1D32 (S266fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2882229	NM_152730.6(TBC1D32):c.570A>G (p.Arg190=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882018	NM_152730.6(TBC1D32):c.495+14T>C	TBC1D32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863246	NM_152730.6(TBC1D32):c.404G>A (p.Arg135Gln)	TBC1D32 (R135Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2860585	NM_152730.6(TBC1D32):c.3099T>C (p.Asp1033=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2810442	NM_152730.6(TBC1D32):c.564G>A (p.Glu188=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2810441	NM_152730.6(TBC1D32):c.1642C>T (p.His548Tyr)	TBC1D32 (H548Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761243	NM_152730.6(TBC1D32):c.3026A>G (p.Gln1009Arg)	TBC1D32 (Q1009R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2758665	NM_152730.6(TBC1D32):c.3749G>A (p.Arg1250Gln)	TBC1D32 (R1291Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2747244	NM_152730.6(TBC1D32):c.3614T>C (p.Leu1205Pro)	TBC1D32 (L1205P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2727306	NM_152730.6(TBC1D32):c.3466-6_3466-5dup	TBC1D32	Duplication (intron variant)	not provided	GBenign
Select item 2721827	NM_152730.6(TBC1D32):c.543G>A (p.Leu181=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2720437	NM_152730.6(TBC1D32):c.3446C>T (p.Ser1149Phe)	TBC1D32 (S1190F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713331	NM_152730.6(TBC1D32):c.1779C>T (p.Leu593=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713241	NM_152730.6(TBC1D32):c.2225G>A (p.Gly742Asp)	TBC1D32 (G742D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2662151	NM_152730.6(TBC1D32):c.1356G>T (p.Lys452Asn)	TBC1D32 (K452N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636263	NM_152730.6(TBC1D32):c.1475C>T (p.Ser492Phe)	TBC1D32 (S492F)	Single nucleotide variant (missense variant +1 more)	TBC1D32-related disorder	GUncertain significance
Select item 2632969	NM_152730.6(TBC1D32):c.2545G>T (p.Glu849Ter)	TBC1D32 (E849*)	Single nucleotide variant (nonsense +1 more)	TBC1D32-related disorder	GLikely pathogenic
Select item 2603445	NM_152730.6(TBC1D32):c.1751T>C (p.Ile584Thr)	TBC1D32 (I584T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603123	NM_152730.6(TBC1D32):c.1567A>T (p.Thr523Ser)	TBC1D32 (T523S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2547813	NM_152730.6(TBC1D32):c.3527A>G (p.His1176Arg)	TBC1D32 (H1176R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2537403	NM_152730.6(TBC1D32):c.217G>A (p.Glu73Lys)	TBC1D32 (E73K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531058	NM_152730.6(TBC1D32):c.2650C>T (p.Arg884Trp)	TBC1D32 (R925W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518489	NM_152730.6(TBC1D32):c.1563A>G (p.Ile521Met)	TBC1D32 (I521M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512032	NM_152730.6(TBC1D32):c.658G>A (p.Val220Met)	TBC1D32 (V220M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500743	NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)	TBC1D32 (R734*)	Single nucleotide variant (nonsense +1 more)	Ciliopathy +2 more	GPathogenic/Likely pathogenic
Select item 2491359	NM_152730.6(TBC1D32):c.3725G>A (p.Arg1242Gln)	TBC1D32 (R1283Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475161	NM_152730.6(TBC1D32):c.3576C>G (p.Ile1192Met)	TBC1D32 (I1233M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460930	NM_152730.6(TBC1D32):c.2856T>A (p.Phe952Leu)	TBC1D32 (F993L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427404	NC_000006.11:g.(?_121401917)_(121427329_?)del	TBC1D32	Deletion	not provided	GUncertain significance
Select item 2391892	NM_152730.6(TBC1D32):c.3073C>T (p.Leu1025Phe)	TBC1D32 (L1066F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385958	NM_152730.6(TBC1D32):c.877C>T (p.Arg293Cys)	TBC1D32 (R293C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360807	NM_152730.6(TBC1D32):c.1043T>C (p.Leu348Ser)	TBC1D32 (L348S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359489	NM_152730.6(TBC1D32):c.2586T>A (p.Asp862Glu)	TBC1D32 (D903E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2356778	NM_152730.6(TBC1D32):c.431A>G (p.Gln144Arg)	TBC1D32 (Q144R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347123	NM_152730.6(TBC1D32):c.2735A>G (p.Tyr912Cys)	TBC1D32 (Y912C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341158	NM_152730.6(TBC1D32):c.1463C>T (p.Ser488Leu)	LOC132089326, TBC1D32 (S488L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2341149	NM_152730.6(TBC1D32):c.3182G>C (p.Gly1061Ala)	TBC1D32 (G1102A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2337595	NM_152730.6(TBC1D32):c.77A>G (p.Lys26Arg)	TBC1D32 (K26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326663	NM_152730.6(TBC1D32):c.3424G>A (p.Val1142Met)	TBC1D32 (V1142M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324283	NM_152730.6(TBC1D32):c.1680A>C (p.Glu560Asp)	TBC1D32 (E560D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321711	NM_152730.6(TBC1D32):c.2340T>A (p.Asp780Glu)	TBC1D32 (D780E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318417	NM_152730.6(TBC1D32):c.223A>G (p.Met75Val)	TBC1D32 (M75V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317848	NM_152730.6(TBC1D32):c.1597A>G (p.Lys533Glu)	TBC1D32 (K533E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300127	NM_152730.6(TBC1D32):c.2674G>A (p.Glu892Lys)	TBC1D32 (E892K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293077	NM_152730.6(TBC1D32):c.2459G>A (p.Arg820His)	TBC1D32 (R820H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291712	NM_152730.6(TBC1D32):c.1916T>C (p.Ile639Thr)	TBC1D32 (I639T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279946	NM_152730.6(TBC1D32):c.2482-2A>G	TBC1D32	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2276013	NM_152730.6(TBC1D32):c.1376T>G (p.Leu459Trp)	TBC1D32 (L459W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275497	NM_152730.6(TBC1D32):c.1733+5G>T	TBC1D32	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance

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