11578[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
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 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 150318	GRCh38/hg38 4p14(chr4:37283110-38559285)x3	C4orf19, LINC01258 +68 more	Copy number gain	See cases	GUncertain significance
Select item 787799	NM_001396959.1(TBC1D1):c.45C>T (p.Asn15=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder +1 more	GBenign/Likely 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 2300604	NM_001396959.1(TBC1D1):c.94C>T (p.His32Tyr)	TBC1D1 (H32Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267786	NM_001396959.1(TBC1D1):c.112C>T (p.Pro38Ser)	TBC1D1 (P38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3030619	NM_001396959.1(TBC1D1):c.143G>A (p.Arg48Gln)	TBC1D1 (R48Q)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
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 2365553	NM_001396959.1(TBC1D1):c.202G>A (p.Val68Ile)	TBC1D1 (V68I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787800	NM_001396959.1(TBC1D1):c.207A>G (p.Ser69=)	TBC1D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2494108	NM_001396959.1(TBC1D1):c.256G>C (p.Asp86His)	TBC1D1 (D86H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327396	NM_001396959.1(TBC1D1):c.256G>T (p.Asp86Tyr)	TBC1D1 (D86Y)	Single nucleotide variant (missense variant)	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 711939	NM_001396959.1(TBC1D1):c.363C>T (p.Asp121=)	TBC1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3058918	NM_001396959.1(TBC1D1):c.373C>T (p.Arg125Trp)	TBC1D1 (R125W)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GBenign
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 3174376	NM_001396959.1(TBC1D1):c.413C>T (p.Thr138Ile)	TBC1D1 (T138I)	Single nucleotide variant (missense variant)	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 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 2355481	NM_006607.3(PTTG2):c.50G>A (p.Arg17His)	PTTG2, TBC1D1 (R17H)	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 2209227	NM_006607.3(PTTG2):c.178A>G (p.Thr60Ala)	PTTG2, TBC1D1 (T60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357266	NM_006607.3(PTTG2):c.194G>A (p.Gly65Asp)	PTTG2, TBC1D1 (G65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459208	NM_006607.3(PTTG2):c.261C>A (p.Ser87Arg)	PTTG2, TBC1D1 (S87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529202	NM_006607.3(PTTG2):c.272A>G (p.Lys91Arg)	PTTG2, TBC1D1 (K91R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2364361	NM_006607.3(PTTG2):c.298A>G (p.Thr100Ala)	PTTG2, TBC1D1 (T100A)	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 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 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 2290186	NM_006607.3(PTTG2):c.530A>G (p.Asn177Ser)	PTTG2, TBC1D1 (N177S)	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 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 3053819	NM_001396959.1(TBC1D1):c.418-16CT[4]	TBC1D1	Microsatellite (intron variant)	TBC1D1-related disorder	GLikely benign
Select item 2511304	NM_001396959.1(TBC1D1):c.539G>A (p.Arg180His)	TBC1D1 (R180H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408311	NM_001396959.1(TBC1D1):c.554A>C (p.His185Pro)	TBC1D1 (H185P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2383699	NM_001396959.1(TBC1D1):c.602A>G (p.Asn201Ser)	TBC1D1 (N201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541387	NM_001396959.1(TBC1D1):c.616A>T (p.Ser206Cys)	TBC1D1 (S206C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345692	NM_001396959.1(TBC1D1):c.638G>C (p.Arg213Pro)	TBC1D1 (R213P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 788408	NM_001396959.1(TBC1D1):c.645C>A (p.Asn215Lys)	TBC1D1 (N215K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 735396	NM_001396959.1(TBC1D1):c.648G>C (p.Pro216=)	TBC1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 737874	NM_001396959.1(TBC1D1):c.717C>T (p.Pro239=)	TBC1D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2318788	NM_001396959.1(TBC1D1):c.730C>G (p.Leu244Val)	TBC1D1 (L244V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336508	NM_001396959.1(TBC1D1):c.761G>C (p.Gly254Ala)	TBC1D1 (G254A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3043013	NM_001396959.1(TBC1D1):c.813C>T (p.Asn271=)	TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
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 2365655	NM_001396959.1(TBC1D1):c.881C>T (p.Thr294Met)	TBC1D1 (T294M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57856	GRCh38/hg38 4p14(chr4:38015168-38397834)x3	LINC02513, LOC105374409 +26 more	Copy number gain	See cases	GUncertain significance
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 2224134	NM_001396959.1(TBC1D1):c.907A>G (p.Ile303Val)	TBC1D1 (I303V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530320	NM_001396959.1(TBC1D1):c.938A>G (p.Glu313Gly)	TBC1D1 (E313G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774856	NM_001396959.1(TBC1D1):c.980G>A (p.Arg327Lys)	LOC126807034, TBC1D1 (R327K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 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 3039736	NM_001396959.1(TBC1D1):c.1029C>T (p.Gly343=)	LOC126807034, TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related disorder	GLikely benign
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 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 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 3174353	NM_001396959.1(TBC1D1):c.1092G>C (p.Met364Ile)	TBC1D1 (M364I)	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 2595515	NM_001396959.1(TBC1D1):c.1237G>A (p.Glu413Lys)	TBC1D1 (E413K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363115	NM_001396959.1(TBC1D1):c.1256C>T (p.Thr419Met)	TBC1D1 (T419M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3174355	NM_001396959.1(TBC1D1):c.1313C>T (p.Pro438Leu)	TBC1D1 (P438L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809631	NM_001396959.1(TBC1D1):c.1326G>C (p.Gln442His)	TBC1D1 (Q442H)	Single nucleotide variant (missense variant)	not provided	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 2634772	NM_001396959.1(TBC1D1):c.1418C>G (p.Ser473Trp)	TBC1D1 (S473W)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GUncertain significance
Select item 1699059	NM_001396959.1(TBC1D1):c.1418C>T (p.Ser473Leu)	TBC1D1 (S473L)	Single nucleotide variant (missense variant)	Non-syndromic renal or urinary tract malformation +1 more	GUncertain significance
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 2598053	NM_001396959.1(TBC1D1):c.1439T>C (p.Ile480Thr)	TBC1D1 (I480T)	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 2300693	NM_001396959.1(TBC1D1):c.1454C>T (p.Pro485Leu)	TBC1D1 (P485L)	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 2612723	NM_001396959.1(TBC1D1):c.1577T>C (p.Ile526Thr)	TBC1D1 (I526T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2221930	NM_001396959.1(TBC1D1):c.1655C>A (p.Ala552Asp)	TBC1D1 (A552D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3051725	NM_001396959.1(TBC1D1):c.1674C>G (p.Ser558Arg)	TBC1D1 (S558R)	Single nucleotide variant (missense variant)	TBC1D1-related disorder	GLikely benign
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 2543448	NM_001396959.1(TBC1D1):c.1729C>T (p.Leu577Phe)	TBC1D1 (L577F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2544429	NM_001396959.1(TBC1D1):c.1778G>A (p.Arg593Gln)	TBC1D1 (R593Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392914	NM_001396959.1(TBC1D1):c.1796A>C (p.His599Pro)	TBC1D1 (H599P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781715	NM_001396959.1(TBC1D1):c.1812C>T (p.Cys604=)	TBC1D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2598382	NM_001396959.1(TBC1D1):c.1826A>C (p.Gln609Pro)	TBC1D1 (Q609P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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