"Ambry Genetics"[submitter] AND "CD44"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615985	NM_000610.4(CD44):c.58G>A (p.Ala20Thr)	CD44 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478814	NM_000610.4(CD44):c.110A>C (p.Glu37Ala)	CD44 (E37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526453	NM_000610.4(CD44):c.136C>T (p.Arg46Trp)	CD44 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264842	NM_000610.4(CD44):c.189G>T (p.Met63Ile)	CD44 (M63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264843	NM_000610.4(CD44):c.269G>A (p.Arg90Gln)	CD44 (R90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140596	NM_000610.4(CD44):c.329A>G (p.Asn110Ser)	CD44 (N110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216609	NM_000610.4(CD44):c.488C>T (p.Thr163Met)	CD44 (T163M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140597	NM_000610.4(CD44):c.516C>A (p.Asn172Lys)	CD44 (N172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264839	NM_000610.4(CD44):c.536G>A (p.Ser179Asn)	CD44 (S179N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255321	NM_000610.4(CD44):c.574G>C (p.Gly192Arg)	CD44 (G192R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140598	NM_000610.4(CD44):c.764A>T (p.Lys255Met)	CD44 (K255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332985	NM_000610.4(CD44):c.858A>T (p.Arg286Ser)	CD44 (R243S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456975	NM_000610.4(CD44):c.937C>T (p.Arg313Trp)	CD44 (R313W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218500	NM_000610.4(CD44):c.940G>A (p.Ala314Thr)	CD44 (A271T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532090	NM_000610.4(CD44):c.970T>G (p.Trp324Gly)	CD44 (W281G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140591	NM_000610.4(CD44):c.1021A>G (p.Thr341Ala)	CD44 (T341A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140592	NM_000610.4(CD44):c.1157A>G (p.Gln386Arg)	CD44 (Q386R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514365	NM_000610.4(CD44):c.1162A>G (p.Thr388Ala)	CD44 (T345A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303161	NM_000610.4(CD44):c.1166C>G (p.Pro389Arg)	CD44 (P389R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550599	NM_000610.4(CD44):c.1220G>A (p.Arg407Lys)	CD44 (R364K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373440	NM_000610.4(CD44):c.1225C>T (p.His409Tyr)	CD44 (H409Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597702	NM_000610.4(CD44):c.1238G>A (p.Arg413His)	CD44 (R370H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379975	NM_000610.4(CD44):c.1289C>T (p.Ser430Leu)	CD44 (S387L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264841	NM_000610.4(CD44):c.1367C>A (p.Pro456Gln)	CD44 (P413Q +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 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 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 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 3264837	NM_000610.4(CD44):c.2016T>C (p.Ser672=)	CD44 (S85P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2479017	NM_000610.4(CD44):c.2053A>C (p.Asn685His)	CD44 (N283H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525827	NM_000610.4(CD44):c.2115G>A (p.Lys705=)	CD44 (V118I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2211734	NM_000610.4(CD44):c.2215A>C (p.Lys739Gln)	CD44 (K696Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38