Related gene-specific medical variations for Gene (Select 23216) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3045537	NM_001396959.1(TBC1D1):c.1072G>A (p.Ala358Thr)	LOC126807034, TBC1D1 (A358T)	Single nucleotide variant (missense variant)	TBC1D1-related condition	GUncertain significance
Select item 3039736	NM_001396959.1(TBC1D1):c.1029C>T (p.Gly343=)	LOC126807034, TBC1D1	Single nucleotide variant (synonymous variant)	TBC1D1-related condition	GLikely benign
Select item 3032499	NM_001396959.1(TBC1D1):c.983_984del (p.His328fs)	LOC126807034, TBC1D1 (H328fs)	Microsatellite (frameshift variant)	TBC1D1-related condition	GUncertain significance
Select item 2631046	NM_001396959.1(TBC1D1):c.1069G>C (p.Glu357Gln)	LOC126807034, TBC1D1 (E357Q)	Single nucleotide variant (missense variant)	TBC1D1-related condition	GUncertain significance
Select item 2628683	NM_001396959.1(TBC1D1):c.1010G>T (p.Arg337Leu)	LOC126807034, TBC1D1 (R337L)	Single nucleotide variant (missense variant)	TBC1D1-related condition	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 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 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 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 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 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 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 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 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 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 774856	NM_001396959.1(TBC1D1):c.980G>A (p.Arg327Lys)	LOC126807034, TBC1D1 (R327K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign

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Links from Gene

Items: 24