Related gene-specific medical variations for Gene (Select 91978) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328273	NM_033513.3(TPGS1):c.44C>A (p.Ala15Asp)	MADCAM1-AS1, TPGS1 (A15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181526	NM_033513.3(TPGS1):c.281A>G (p.Gln94Arg)	MADCAM1-AS1, TPGS1 (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181525	NM_033513.3(TPGS1):c.199C>G (p.Leu67Val)	MADCAM1-AS1, TPGS1 (L67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181524	NM_033513.3(TPGS1):c.119G>A (p.Arg40Gln)	MADCAM1-AS1, TPGS1 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607571	NM_033513.3(TPGS1):c.149C>T (p.Ala50Val)	MADCAM1-AS1, TPGS1 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559735	NM_033513.3(TPGS1):c.145C>T (p.Arg49Cys)	MADCAM1-AS1, TPGS1 (R49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365971	NM_033513.3(TPGS1):c.105G>C (p.Glu35Asp)	MADCAM1-AS1, TPGS1 (E35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352859	NM_033513.3(TPGS1):c.91G>A (p.Ala31Thr)	MADCAM1-AS1, TPGS1 (A31T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279467	NM_033513.3(TPGS1):c.260C>T (p.Pro87Leu)	MADCAM1-AS1, TPGS1 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263970	NM_033513.3(TPGS1):c.7G>A (p.Ala3Thr)	MADCAM1-AS1, TPGS1 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790194	NM_033513.3(TPGS1):c.39G>A (p.Pro13=)	MADCAM1-AS1, TPGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733981	NM_033513.3(TPGS1):c.135G>A (p.Thr45=)	MADCAM1-AS1, TPGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign