"Ambry Genetics"[submitter] AND "CD68"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340571	NM_001251.3(CD68):c.29C>T (p.Ala10Val)	CD68 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365690	NM_001251.3(CD68):c.118C>T (p.Pro40Ser)	CD68 (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556142	NM_001251.3(CD68):c.176C>G (p.Thr59Ser)	CD68 (T32S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226317	NM_001251.3(CD68):c.202G>A (p.Gly68Ser)	CD68 (G41S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220904	NM_001251.3(CD68):c.224C>T (p.Thr75Met)	CD68 (T48M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140647	NM_001251.3(CD68):c.248C>T (p.Thr83Ile)	CD68 (T83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140648	NM_001251.3(CD68):c.253A>C (p.Ser85Arg)	CD68 (S58R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382679	NM_001251.3(CD68):c.290G>A (p.Ser97Asn)	CD68 (S70N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216825	NM_001251.3(CD68):c.470T>C (p.Ile157Thr)	CD68 (I130T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514555	NM_001251.3(CD68):c.551C>T (p.Thr184Ile)	CD68, LOC130060163 (T157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624170	NM_001251.3(CD68):c.635C>T (p.Pro212Leu)	CD68 (P185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232677	NM_001251.3(CD68):c.652T>C (p.Phe218Leu)	CD68 (F191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140650	NM_001251.3(CD68):c.659A>G (p.Tyr220Cys)	CD68 (Y220C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384874	NM_001251.3(CD68):c.721A>G (p.Met241Val)	CD68 (M214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140651	NM_001251.3(CD68):c.773C>T (p.Ser258Leu)	CD68 (S231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291752	NM_001251.3(CD68):c.842G>A (p.Ser281Asn)	CD68 (S254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265779	NM_001251.3(CD68):c.867C>A (p.His289Gln)	CD68 (H289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390505	NM_001251.3(CD68):c.883C>G (p.Leu295Val)	CD68 (L268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140652	NM_001251.3(CD68):c.896C>A (p.Ala299Asp)	CD68 (A272D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140646	NM_001251.3(CD68):c.1033C>T (p.Arg345Trp)	CD68 (R345W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480230	NM_001251.3(CD68):c.1036A>G (p.Arg346Gly)	CD68 (R319G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 21