"Ambry Genetics"[submitter] AND "USP39"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2223397	NM_001013649.4(C2orf68):c.211C>A (p.Leu71Met)	C2orf68, USP39 (L71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187570	NM_006590.4(USP39):c.7G>A (p.Gly3Ser)	USP39 (G3S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187563	NM_006590.4(USP39):c.23A>G (p.Glu8Gly)	USP39 (E8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187566	NM_006590.4(USP39):c.31G>A (p.Gly11Ser)	USP39 (G11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187567	NM_006590.4(USP39):c.40C>T (p.Arg14Cys)	USP39 (R14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310052	NM_006590.4(USP39):c.74C>T (p.Ser25Phe)	USP39 (S25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262315	NM_006590.4(USP39):c.119C>T (p.Ala40Val)	USP39 (A40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187558	NM_006590.4(USP39):c.124A>C (p.Ser42Arg)	USP39 (S42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255474	NM_006590.4(USP39):c.134G>A (p.Gly45Asp)	USP39 (G45D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331531	NM_006590.4(USP39):c.145C>T (p.Arg49Cys)	USP39 (R49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331530	NM_006590.4(USP39):c.149T>C (p.Val50Ala)	USP39 (V50A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526412	NM_006590.4(USP39):c.157G>C (p.Glu53Gln)	USP39 (E53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330327	NM_006590.4(USP39):c.173G>T (p.Ser58Ile)	USP39 (S58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204990	NM_006590.4(USP39):c.226C>T (p.Arg76Cys)	USP39 (R76C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392638	NM_006590.4(USP39):c.232G>A (p.Val78Ile)	USP39 (V78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187564	NM_006590.4(USP39):c.307C>T (p.Arg103Cys)	USP39 (R103C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187568	NM_006590.4(USP39):c.432A>T (p.Gln144His)	USP39 (Q144H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187569	NM_006590.4(USP39):c.788A>G (p.Lys263Arg)	USP39 (K160R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342258	NM_006590.4(USP39):c.944A>G (p.Lys315Arg)	USP39 (K315R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331532	NM_006590.4(USP39):c.958G>T (p.Val320Phe)	USP39 (V217F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331752	NM_006590.4(USP39):c.993C>G (p.His331Gln)	USP39 (H331Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306649	NM_006590.4(USP39):c.1013A>G (p.Lys338Arg)	USP39 (K235R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187557	NM_006590.4(USP39):c.1028C>G (p.Thr343Ser)	USP39 (T265S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224830	NM_006590.4(USP39):c.1326G>C (p.Gln442His)	USP39 (Q339H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187559	NM_006590.4(USP39):c.1381A>T (p.Asn461Tyr)	USP39 (N358Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187560	NM_006590.4(USP39):c.1432G>A (p.Val478Met)	USP39 (V400M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187561	NM_006590.4(USP39):c.1490A>G (p.Tyr497Cys)	USP39 (Y394C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513364	NM_006590.4(USP39):c.1531G>A (p.Glu511Lys)	USP39 (E408K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383885	NM_006590.4(USP39):c.1531G>C (p.Glu511Gln)	USP39 (E511Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329572	NM_006590.4(USP39):c.1603A>G (p.Thr535Ala)	USP39 (T432A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252212	NM_006590.4(USP39):c.1670A>G (p.Asn557Ser)	USP39 (N454S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217184	NM_006590.4(USP39):c.1681A>G (p.Asn561Asp)	USP39 (N561D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386253	NM_006590.4(USP39):c.1690G>C (p.Gly564Arg)	USP39 (G486R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 33