TBC1D32[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 249

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
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 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146380	GRCh38/hg38 6q22.31(chr6:120977382-121468709)x3	LOC132089325, GJA1 +11 more	Copy number gain	See cases	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 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 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 2009950	NM_152730.6(TBC1D32):c.3713A>G (p.Glu1238Gly)	TBC1D32 (E1279G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1383946	NM_152730.6(TBC1D32):c.3711G>A (p.Leu1237=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1541792	NM_152730.6(TBC1D32):c.3695A>C (p.Glu1232Ala)	TBC1D32 (E1232A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1695165	NM_152730.6(TBC1D32):c.3677G>C (p.Arg1226Pro)	TBC1D32 (R1226P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 781887	NM_152730.6(TBC1D32):c.3667C>T (p.His1223Tyr)	TBC1D32 (H1223Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 813688	NM_152730.6(TBC1D32):c.3566A>G (p.Gln1189Arg)	TBC1D32 (Q1189R +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 782999	NM_152730.6(TBC1D32):c.3539C>T (p.Thr1180Ile)	TBC1D32 (T1180I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 764534	NM_152730.6(TBC1D32):c.3510T>C (p.Asp1170=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2727306	NM_152730.6(TBC1D32):c.3466-6_3466-5dup	TBC1D32	Duplication (intron variant)	not provided	GBenign
Select item 1560532	NM_152730.6(TBC1D32):c.3466-5dup	TBC1D32	Duplication (intron variant)	not provided	GBenign
Select item 1601435	NM_152730.6(TBC1D32):c.3466-5del	TBC1D32	Deletion (intron variant)	not provided	GBenign
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 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 737222	NM_152730.6(TBC1D32):c.3424G>T (p.Val1142Leu)	TBC1D32 (V1142L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2132826	NM_152730.6(TBC1D32):c.3384C>A (p.Thr1128=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742756	NM_152730.6(TBC1D32):c.3372T>C (p.Tyr1124=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600966	NM_152730.6(TBC1D32):c.3351A>G (p.Glu1117=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 790586	NM_152730.6(TBC1D32):c.3333T>G (p.Leu1111=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1366956	NM_152730.6(TBC1D32):c.3311G>C (p.Arg1104Thr)	TBC1D32 (R1145T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 744746	NM_152730.6(TBC1D32):c.3201C>T (p.Asp1067=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	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 795870	NM_152730.6(TBC1D32):c.3189T>C (p.Tyr1063=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2178169	NM_152730.6(TBC1D32):c.3131T>C (p.Phe1044Ser)	TBC1D32 (F1044S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054643	NM_152730.6(TBC1D32):c.3107G>A (p.Trp1036Ter)	TBC1D32 (W1077* +1 more)	Single nucleotide variant (nonsense +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 1587392	NM_152730.6(TBC1D32):c.3088G>T (p.Ala1030Ser)	TBC1D32 (A1030S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1924080	NM_152730.6(TBC1D32):c.3078A>G (p.Leu1026=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1599145	NM_152730.6(TBC1D32):c.3053+20C>T	TBC1D32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 744429	NM_152730.6(TBC1D32):c.3053+9T>A	TBC1D32	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1897050	NM_152730.6(TBC1D32):c.2983+19G>A	TBC1D32	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932446	NM_152730.6(TBC1D32):c.2978A>C (p.Tyr993Ser)	TBC1D32 (Y993S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1395650	NM_152730.6(TBC1D32):c.2951C>G (p.Ser984Cys)	TBC1D32 (S1025C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2217723	NM_152730.6(TBC1D32):c.2840A>G (p.Asn947Ser)	TBC1D32 (N947S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 751718	NM_152730.6(TBC1D32):c.2799A>G (p.Leu933=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600111	NM_152730.6(TBC1D32):c.2775C>T (p.Asp925=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1904835	NM_152730.6(TBC1D32):c.2751A>G (p.Thr917=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937603	NM_152730.6(TBC1D32):c.2744A>G (p.Asp915Gly)	TBC1D32 (D915G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1987636	NM_152730.6(TBC1D32):c.2734T>A (p.Tyr912Asn)	TBC1D32 (Y953N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120267	NM_152730.6(TBC1D32):c.2699G>T (p.Trp900Leu)	TBC1D32 (W941L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055847	NM_152730.6(TBC1D32):c.2680-3del	TBC1D32	Deletion (intron variant)	not provided	GBenign
Select item 1992112	NM_152730.6(TBC1D32):c.2678A>T (p.Lys893Met)	TBC1D32 (K893M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 771404	NM_152730.6(TBC1D32):c.2664G>A (p.Pro888=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708436	NM_152730.6(TBC1D32):c.2663C>T (p.Pro888Leu)	TBC1D32 (P929L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1375536	NM_152730.6(TBC1D32):c.2651G>A (p.Arg884Gln)	TBC1D32 (R884Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2531058	NM_152730.6(TBC1D32):c.2650C>T (p.Arg884Trp)	TBC1D32 (R925W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2262377	NM_152730.6(TBC1D32):c.2572G>A (p.Asp858Asn)	TBC1D32 (D858N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2279946	NM_152730.6(TBC1D32):c.2482-2A>G	TBC1D32	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2001657	NM_152730.6(TBC1D32):c.2482-8T>A	TBC1D32	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1506005	NM_152730.6(TBC1D32):c.2458C>T (p.Arg820Cys)	TBC1D32 (R820C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2109728	NM_152730.6(TBC1D32):c.2433T>C (p.Leu811=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559260	NM_152730.6(TBC1D32):c.2431C>A (p.Leu811Ile)	TBC1D32 (L811I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1381835	NM_152730.6(TBC1D32):c.2429A>T (p.Asp810Val)	TBC1D32 (D810V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 1972323	NM_152730.6(TBC1D32):c.2270A>C (p.Glu757Ala)	TBC1D32 (E757A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1579717	NM_152730.6(TBC1D32):c.2245+16T>G	TBC1D32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1933353	NM_152730.6(TBC1D32):c.2245+10T>A	TBC1D32	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 724958	NM_152730.6(TBC1D32):c.2215G>A (p.Ala739Thr)	TBC1D32 (A739T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 1598848	NM_152730.6(TBC1D32):c.2158-19T>A	TBC1D32	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 788413	NM_152730.6(TBC1D32):c.2070C>A (p.Thr690=)	TBC1D32	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

<< First< Prev

Page of 3