"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TSR2"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695305	NM_058163.3(TSR2):c.104G>C (p.Gly35Ala)	TSR2 (G35A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2660661	NM_058163.3(TSR2):c.166C>A (p.Arg56Ser)	TSR2 (R56S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2163892	NM_058163.3(TSR2):c.318T>C (p.Ala106=)	TSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3067591	NM_058163.3(TSR2):c.442-4C>T	TSR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2660662	NM_004463.3(FGD1):c.2773T>G (p.Phe925Val)	FGD1, TSR2 (F925V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660663	NM_004463.3(FGD1):c.2647C>T (p.Arg883Trp)	FGD1, TSR2 (R883W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1794059	NM_004463.3(FGD1):c.2631G>A (p.Pro877=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 786705	NM_004463.3(FGD1):c.2581-6C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	TSR2-related condition +3 more	GBenign/Likely benign
Select item 2660664	NM_004463.3(FGD1):c.2569G>A (p.Gly857Arg)	FGD1, TSR2 (G857R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance