ClinVar for Gene (Select 23216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324571	NM_001396959.1(TBC1D1):c.3228C>A (p.Phe1076Leu)	TBC1D1 (F79L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324570	NM_001396959.1(TBC1D1):c.982C>T (p.His328Tyr)	LOC126807034, TBC1D1 (H328Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324569	NM_001396959.1(TBC1D1):c.3365G>A (p.Ser1122Asn)	TBC1D1 (S1028N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3324568	NM_001396959.1(TBC1D1):c.3368C>T (p.Thr1123Met)	TBC1D1 (T1029M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324567	NM_001396959.1(TBC1D1):c.1748C>T (p.Pro583Leu)	TBC1D1 (P583L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3324566	NM_001396959.1(TBC1D1):c.1574C>T (p.Ser525Phe)	TBC1D1 (S525F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324565	NM_001396959.1(TBC1D1):c.591C>G (p.Ile197Met)	TBC1D1 (I197M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324564	NM_001396959.1(TBC1D1):c.620G>C (p.Arg207Pro)	TBC1D1 (R207P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324563	NM_001396959.1(TBC1D1):c.3490G>T (p.Asp1164Tyr)	TBC1D1 (D1061Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311709	NM_006607.3(PTTG2):c.275A>G (p.Lys92Arg)	PTTG2, TBC1D1 (K92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311708	NM_006607.3(PTTG2):c.442A>G (p.Ile148Val)	PTTG2, TBC1D1 (I148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174380	NM_001396959.1(TBC1D1):c.805A>G (p.Ile269Val)	TBC1D1 (I269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174378	NM_001396959.1(TBC1D1):c.686G>A (p.Arg229His)	TBC1D1 (R229H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174377	NM_001396959.1(TBC1D1):c.647C>T (p.Pro216Leu)	TBC1D1 (P216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3174376	NM_001396959.1(TBC1D1):c.413C>T (p.Thr138Ile)	TBC1D1 (T138I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174375	NM_001396959.1(TBC1D1):c.3784G>A (p.Asp1262Asn)	TBC1D1 (D1159N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174374	NM_001396959.1(TBC1D1):c.3779C>T (p.Thr1260Met)	TBC1D1 (T1260M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174373	NM_001396959.1(TBC1D1):c.3748C>T (p.Arg1250Trp)	TBC1D1 (R168W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174372	NM_001396959.1(TBC1D1):c.3707C>T (p.Thr1236Met)	TBC1D1 (T1142M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174371	NM_001396959.1(TBC1D1):c.3688C>T (p.Arg1230Trp)	TBC1D1 (R1127W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174370	NM_001396959.1(TBC1D1):c.3582G>T (p.Gln1194His)	TBC1D1 (Q112H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174369	NM_001396959.1(TBC1D1):c.3410A>G (p.Asn1137Ser)	TBC1D1 (N1043S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3174367	NM_001396959.1(TBC1D1):c.3152A>G (p.Glu1051Gly)	TBC1D1 (E1051G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174366	NM_001396959.1(TBC1D1):c.3121T>C (p.Tyr1041His)	TBC1D1 (Y44H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174365	NM_001396959.1(TBC1D1):c.275G>C (p.Ser92Thr)	TBC1D1 (S92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174364	NM_001396959.1(TBC1D1):c.2752C>G (p.Pro918Ala)	TBC1D1 (P918A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174363	NM_001396959.1(TBC1D1):c.2435G>A (p.Arg812His)	TBC1D1 (R718H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174361	NM_001396959.1(TBC1D1):c.1819C>T (p.Pro607Ser)	TBC1D1 (P607S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174359	NM_001396959.1(TBC1D1):c.1634C>T (p.Pro545Leu)	TBC1D1 (P545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174358	NM_001396959.1(TBC1D1):c.1507T>C (p.Ser503Pro)	TBC1D1 (S503P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174357	NM_001396959.1(TBC1D1):c.1442G>A (p.Gly481Glu)	TBC1D1 (G481E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174355	NM_001396959.1(TBC1D1):c.1313C>T (p.Pro438Leu)	TBC1D1 (P438L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174354	NM_001396959.1(TBC1D1):c.1123G>T (p.Ala375Ser)	TBC1D1 (A375S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174353	NM_001396959.1(TBC1D1):c.1092G>C (p.Met364Ile)	TBC1D1 (M364I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174352	NM_001396959.1(TBC1D1):c.1030G>A (p.Gly344Ser)	LOC126807034, TBC1D1 (G344S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149743	NM_006607.3(PTTG2):c.565C>A (p.Pro189Thr)	PTTG2, TBC1D1 (P189T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149742	NM_006607.3(PTTG2):c.533T>C (p.Leu178Pro)	PTTG2, TBC1D1 (L178P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149741	NM_006607.3(PTTG2):c.49C>T (p.Arg17Cys)	PTTG2, TBC1D1 (R17C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149740	NM_006607.3(PTTG2):c.428G>A (p.Gly143Glu)	PTTG2, TBC1D1 (G143E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149739	NM_006607.3(PTTG2):c.400C>T (p.Arg134Cys)	PTTG2, TBC1D1 (R134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149738	NM_006607.3(PTTG2):c.283G>A (p.Glu95Lys)	PTTG2, TBC1D1 (E95K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3058918	NM_001396959.1(TBC1D1):c.373C>T (p.Arg125Trp)	TBC1D1 (R125W)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GBenign
Select item 3057420	NM_001396959.1(TBC1D1):c.591C>T (p.Ile197=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3056070	NM_001396959.1(TBC1D1):c.1754C>T (p.Ser585Leu)	TBC1D1 (S585L)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
Select item 3054335	NM_001396959.1(TBC1D1):c.3057G>A (p.Gln1019=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3053819	NM_001396959.1(TBC1D1):c.418-16CT[4]	TBC1D1	Microsatellite (intron variant)	TBC1D1-related disorder	GLikely benign
Select item 3051856	NM_001396959.1(TBC1D1):c.2307G>A (p.Ala769=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3051725	NM_001396959.1(TBC1D1):c.1674C>G (p.Ser558Arg)	TBC1D1 (S558R)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
Select item 3051420	NM_001396959.1(TBC1D1):c.887G>A (p.Gly296Asp)	TBC1D1 (G296D)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
Select item 3051199	NM_001396959.1(TBC1D1):c.2172T>C (p.Ser724=)	TBC1D1	Single nucleotide variant (synonymous variant +1 more)	TBC1D1-related disorder	GLikely benign
Select item 3051143	NM_001396959.1(TBC1D1):c.2673T>C (p.Val891=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3050964	NM_001396959.1(TBC1D1):c.3764C>T (p.Thr1255Met)	TBC1D1 (T1152M +4 more)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
Select item 3048871	NM_001396959.1(TBC1D1):c.2577C>T (p.Pro859=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3046866	NM_001396959.1(TBC1D1):c.164C>T (p.Thr55Ile)	TBC1D1 (T55I)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
Select item 3045537	NM_001396959.1(TBC1D1):c.1072G>A (p.Ala358Thr)	LOC126807034, TBC1D1 (A358T)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 3043320	NM_001396959.1(TBC1D1):c.1953T>C (p.Gly651=)	TBC1D1	Single nucleotide variant (synonymous variant +1 more)	TBC1D1-related disorder	GLikely benign
Select item 3043013	NM_001396959.1(TBC1D1):c.813C>T (p.Asn271=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3042782	NM_001396959.1(TBC1D1):c.402C>T (p.Ala134=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3039736	NM_001396959.1(TBC1D1):c.1029C>T (p.Gly343=)	LOC126807034, TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3039305	NM_001396959.1(TBC1D1):c.2823G>A (p.Ala941=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3039071	NM_001396959.1(TBC1D1):c.3749G>A (p.Arg1250Gln)	TBC1D1 (R1147Q +4 more)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
Select item 3037194	NM_001396959.1(TBC1D1):c.1429G>A (p.Ala477Thr)	TBC1D1 (A477T)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GBenign
Select item 3034157	NM_001396959.1(TBC1D1):c.1665C>A (p.Ile555=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 3032499	NM_001396959.1(TBC1D1):c.983_984del (p.His328fs)	LOC126807034, TBC1D1 (H328fs)	Microsatellite (frameshift variant)	TBC1D1-related disorder	GUncertain significance
Select item 3031040	NM_001396959.1(TBC1D1):c.133G>C (p.Ala45Pro)	TBC1D1 (A45P)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 3030755	NM_001396959.1(TBC1D1):c.2518+9G>T	TBC1D1	Single nucleotide variant (intron variant)	TBC1D1-related disorder	GLikely benign
Select item 3030620	NM_001396959.1(TBC1D1):c.62T>A (p.Phe21Tyr)	TBC1D1 (F21Y)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 3030619	NM_001396959.1(TBC1D1):c.143G>A (p.Arg48Gln)	TBC1D1 (R48Q)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 3030489	NM_001396959.1(TBC1D1):c.2519-7A>G	TBC1D1	Single nucleotide variant (intron variant)	TBC1D1-related disorder	GLikely benign
Select item 3029858	NM_001396959.1(TBC1D1):c.2192+6G>C	TBC1D1	Single nucleotide variant (intron variant)	TBC1D1-related disorder	GLikely benign
Select item 3029801	NM_001396959.1(TBC1D1):c.2778G>C (p.Val926=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
Select item 2685963	GRCh37/hg19 4p14(chr4:37769060-37985461)x3	PGM2, PTTG2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2654722	NM_001396959.1(TBC1D1):c.2601G>T (p.Val867=)	TBC1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654721	NM_001396959.1(TBC1D1):c.248A>G (p.Gln83Arg)	TBC1D1 (Q83R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2635919	NM_001396959.1(TBC1D1):c.3229G>A (p.Val1077Ile)	TBC1D1 (V1077I +2 more)	Single nucleotide variant (missense variant +1 more)	TBC1D1-related disorder	GUncertain significance
Select item 2634772	NM_001396959.1(TBC1D1):c.1418C>G (p.Ser473Trp)	TBC1D1 (S473W)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 2631046	NM_001396959.1(TBC1D1):c.1069G>C (p.Glu357Gln)	LOC126807034, TBC1D1 (E357Q)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 2629467	NM_001396959.1(TBC1D1):c.1341_1344del (p.Ile448fs)	TBC1D1 (I448fs)	Deletion (frameshift variant)	TBC1D1-related disorder	GUncertain significance
Select item 2628911	NM_001396959.1(TBC1D1):c.370C>T (p.His124Tyr)	TBC1D1 (H124Y)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 2628683	NM_001396959.1(TBC1D1):c.1010G>T (p.Arg337Leu)	LOC126807034, TBC1D1 (R337L)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 2615924	NM_001396959.1(TBC1D1):c.866G>C (p.Arg289Pro)	TBC1D1 (R289P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612723	NM_001396959.1(TBC1D1):c.1577T>C (p.Ile526Thr)	TBC1D1 (I526T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2610729	NM_001396959.1(TBC1D1):c.2929C>G (p.Leu977Val)	TBC1D1 (L977V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607975	NM_001396959.1(TBC1D1):c.1706T>C (p.Leu569Pro)	TBC1D1 (L569P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598382	NM_001396959.1(TBC1D1):c.1826A>C (p.Gln609Pro)	TBC1D1 (Q609P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598053	NM_001396959.1(TBC1D1):c.1439T>C (p.Ile480Thr)	TBC1D1 (I480T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595515	NM_001396959.1(TBC1D1):c.1237G>A (p.Glu413Lys)	TBC1D1 (E413K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591917	NM_001396959.1(TBC1D1):c.2982G>C (p.Leu994Phe)	TBC1D1 (L994F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588907	NM_006607.3(PTTG2):c.279G>A (p.Met93Ile)	PTTG2, TBC1D1 (M93I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2570345	NM_006607.3(PTTG2):c.506T>G (p.Met169Arg)	PTTG2, TBC1D1 (M169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569161	NM_001396959.1(TBC1D1):c.3248T>C (p.Met1083Thr)	TBC1D1 (M1083T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2556556	NM_006607.3(PTTG2):c.41C>G (p.Pro14Arg)	PTTG2, TBC1D1 (P14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547685	NM_006607.3(PTTG2):c.158C>T (p.Pro53Leu)	PTTG2, TBC1D1 (P53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545728	NM_001396959.1(TBC1D1):c.1283C>T (p.Thr428Ile)	TBC1D1 (T428I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544429	NM_001396959.1(TBC1D1):c.1778G>A (p.Arg593Gln)	TBC1D1 (R593Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543448	NM_001396959.1(TBC1D1):c.1729C>T (p.Leu577Phe)	TBC1D1 (L577F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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