Related gene-specific medical variations for Gene (Select 8436) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263588	NM_004657.6(CAVIN2):c.109A>G (p.Ser37Gly)	CAVIN2, CAVIN2-AS1 (S37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137892	NM_004657.6(CAVIN2):c.67C>T (p.Pro23Ser)	CAVIN2, CAVIN2-AS1 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137886	NM_004657.6(CAVIN2):c.56G>A (p.Arg19Gln)	CAVIN2, CAVIN2-AS1 (R19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137877	NM_004657.6(CAVIN2):c.43G>A (p.Gly15Arg)	CAVIN2, CAVIN2-AS1 (G15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137876	NM_004657.6(CAVIN2):c.422G>C (p.Arg141Pro)	CAVIN2, CAVIN2-AS1 (R141P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137875	NM_004657.6(CAVIN2):c.410C>T (p.Ala137Val)	CAVIN2, CAVIN2-AS1 (A137V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137874	NM_004657.6(CAVIN2):c.306G>T (p.Lys102Asn)	CAVIN2, CAVIN2-AS1 (K102N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2651772	NM_004657.6(CAVIN2):c.171G>T (p.Thr57=)	CAVIN2, CAVIN2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 790511	NM_004657.6(CAVIN2):c.198G>A (p.Val66=)	CAVIN2, CAVIN2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign