Related gene-specific medical variations for Gene (Select 960) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264840	NM_000610.4(CD44):c.1651G>A (p.Glu551Lys)	CD44, CD44-AS1 (E302K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264838	NM_000610.4(CD44):c.1655G>C (p.Gly552Ala)	CD44, CD44-AS1 (G239A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140595	NM_000610.4(CD44):c.1835G>A (p.Ser612Asn)	CD44, CD44-AS1 +1 more (S363N +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140594	NM_000610.4(CD44):c.1756G>A (p.Val586Ile)	CD44, CD44-AS1 (V543I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140593	NM_000610.4(CD44):c.1598C>A (p.Thr533Lys)	CD44, CD44-AS1 (T284K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2527833	NM_000610.4(CD44):c.1574A>T (p.Asp525Val)	CD44, CD44-AS1 (D525V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2475479	NM_000610.4(CD44):c.1547C>T (p.Ser516Leu)	CD44, CD44-AS1 (S267L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2470150	NM_000610.4(CD44):c.1784A>T (p.Asn595Ile)	CD44, CD44-AS1 (N282I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412056	NM_000610.4(CD44):c.1859G>A (p.Gly620Glu)	CD44, CD44-AS1 +1 more (G620E +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2355954	NM_000610.4(CD44):c.1708A>C (p.Ser570Arg)	CD44, CD44-AS1 (S570R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782773	NM_000610.4(CD44):c.1683C>T (p.Thr561=)	CD44, CD44-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 739568	NM_000610.4(CD44):c.1622C>T (p.Thr541Ile)	CD44, CD44-AS1 (T292I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 126870	NM_000610.4(CD44):c.68-13570A>T	CD44, SNORD164	Single nucleotide variant (non-coding transcript variant +1 more)	Calcium oxalate urolithiasis	Gassociation