"Ambry Genetics"[submitter] AND "TSR2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2302057	NM_058163.3(TSR2):c.14C>T (p.Ala5Val)	TSR2 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262503	NM_058163.3(TSR2):c.22G>C (p.Ala8Pro)	TSR2 (A8P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2621096	NM_058163.3(TSR2):c.61G>C (p.Glu21Gln)	TSR2 (E21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555211	NM_058163.3(TSR2):c.212A>G (p.Glu71Gly)	TSR2 (E71G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521463	NM_058163.3(TSR2):c.292C>T (p.His98Tyr)	TSR2 (H95Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2526099	NM_058163.3(TSR2):c.341G>C (p.Cys114Ser)	TSR2 (C19S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492820	NM_058163.3(TSR2):c.452C>T (p.Thr151Met)	TSR2 (T151M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598649	NM_004463.3(FGD1):c.2857G>A (p.Glu953Lys)	FGD1, TSR2 (E953K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2622685	NM_004463.3(FGD1):c.2851C>T (p.Pro951Ser)	FGD1, TSR2 (P951S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273429	NM_004463.3(FGD1):c.2851C>A (p.Pro951Thr)	FGD1, TSR2 (P951T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1796475	NM_004463.3(FGD1):c.2823G>A (p.Pro941=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589463	NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser)	TSR2, FGD1 (P941S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 287068	NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)	FGD1, TSR2 (E939A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 588692	NM_004463.3(FGD1):c.2805G>A (p.Arg935=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589118	NM_004463.3(FGD1):c.2757G>A (p.Ala919=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2535158	NM_004463.3(FGD1):c.2753G>A (p.Arg918Gln)	FGD1, TSR2 (R918Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795263	NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln)	FGD1, TSR2 (R910Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1794059	NM_004463.3(FGD1):c.2631G>A (p.Pro877=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 585860	NM_004463.3(FGD1):c.2619C>T (p.Phe873=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 786705	NM_004463.3(FGD1):c.2581-6C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 167062	NM_004463.3(FGD1):c.2568C>T (p.Tyr856=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1793043	NM_004463.3(FGD1):c.2559G>A (p.Leu853=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1791688	NM_004463.3(FGD1):c.2466C>T (p.Ser822=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 23