Related gene-specific medical variations for Gene (Select 23232) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324606	NM_015188.2(TBC1D12):c.955G>T (p.Ala319Ser)	LOC130004387, TBC1D12 (A319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324605	NM_015188.2(TBC1D12):c.326G>T (p.Cys109Phe)	LOC130004386, TBC1D12 (C109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324604	NM_015188.2(TBC1D12):c.325T>C (p.Cys109Arg)	LOC130004386, TBC1D12 (C109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324603	NM_015188.2(TBC1D12):c.809A>G (p.His270Arg)	LOC130004387, TBC1D12 (H270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324597	NM_015188.2(TBC1D12):c.367G>A (p.Ala123Thr)	LOC130004386, TBC1D12 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174449	NM_015188.2(TBC1D12):c.890C>T (p.Pro297Leu)	LOC130004387, TBC1D12 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174445	NM_015188.2(TBC1D12):c.532G>A (p.Gly178Ser)	LOC130004386, TBC1D12 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174444	NM_015188.2(TBC1D12):c.358G>A (p.Ala120Thr)	LOC130004386, TBC1D12 (A120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174443	NM_015188.2(TBC1D12):c.293C>T (p.Pro98Leu)	LOC130004386, TBC1D12 (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620193	NM_015188.2(TBC1D12):c.598C>T (p.Arg200Trp)	LOC130004386, TBC1D12 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609227	NM_015188.2(TBC1D12):c.823A>T (p.Asn275Tyr)	LOC130004387, TBC1D12 (N275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608230	NM_015188.2(TBC1D12):c.262T>C (p.Cys88Arg)	LOC130004386, TBC1D12 (C88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601490	NM_015188.2(TBC1D12):c.751A>G (p.Thr251Ala)	LOC130004387, TBC1D12 (T251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590640	NM_015188.2(TBC1D12):c.178G>A (p.Glu60Lys)	LOC130004386, TBC1D12 (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518193	NM_015188.2(TBC1D12):c.293C>G (p.Pro98Arg)	LOC130004386, TBC1D12 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516919	NM_015188.2(TBC1D12):c.940C>T (p.Arg314Trp)	LOC130004387, TBC1D12 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512113	NM_015188.2(TBC1D12):c.785C>G (p.Pro262Arg)	LOC130004387, TBC1D12 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402673	NM_015188.2(TBC1D12):c.638A>G (p.Glu213Gly)	LOC130004386, TBC1D12 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396704	NM_015188.2(TBC1D12):c.374G>T (p.Gly125Val)	LOC130004386, TBC1D12 (G125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355495	NM_015188.2(TBC1D12):c.563C>T (p.Pro188Leu)	LOC130004386, TBC1D12 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312852	NM_015188.2(TBC1D12):c.947G>A (p.Gly316Asp)	LOC130004387, TBC1D12 (G316D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281527	NM_015188.2(TBC1D12):c.626C>T (p.Ala209Val)	LOC130004386, TBC1D12 (A209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266156	NM_015188.2(TBC1D12):c.350A>T (p.His117Leu)	LOC130004386, TBC1D12 (H117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263251	NM_015188.2(TBC1D12):c.844G>A (p.Gly282Ser)	LOC130004387, TBC1D12 (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252019	NM_015188.2(TBC1D12):c.444T>A (p.Asp148Glu)	LOC130004386, TBC1D12 (D148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251222	NM_015188.2(TBC1D12):c.487T>G (p.Ser163Ala)	LOC130004386, TBC1D12 (S163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243296	NM_015188.2(TBC1D12):c.422T>A (p.Leu141Gln)	LOC130004386, TBC1D12 (L141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 27