"Ambry Genetics"[submitter] AND "LOC126859938"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230310	NM_032172.3(USP42):c.1420A>C (p.Lys474Gln)	LOC126859938, USP42 (K474Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257747	NM_032172.3(USP42):c.1456G>A (p.Gly486Arg)	LOC126859938, USP42 (G486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331559	NM_032172.3(USP42):c.1472A>G (p.Asn491Ser)	LOC126859938, USP42 (N491S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187614	NM_032172.3(USP42):c.1487T>C (p.Val496Ala)	LOC126859938, USP42 (V496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299117	NM_032172.3(USP42):c.1562A>G (p.Lys521Arg)	LOC126859938, USP42 (K521R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598973	NM_032172.3(USP42):c.1597C>G (p.Arg533Gly)	LOC126859938, USP42 (R533G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187615	NM_032172.3(USP42):c.1598G>T (p.Arg533Leu)	LOC126859938, USP42 (R533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187616	NM_032172.3(USP42):c.1615C>T (p.Pro539Ser)	LOC126859938, USP42 (P539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187617	NM_032172.3(USP42):c.1625A>G (p.His542Arg)	LOC126859938, USP42 (H542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331577	NM_032172.3(USP42):c.1628G>A (p.Ser543Asn)	LOC126859938, USP42 (S543N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343972	NM_032172.3(USP42):c.1637T>C (p.Leu546Ser)	LOC126859938, USP42 (L546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279658	NM_032172.3(USP42):c.1644C>A (p.Asn548Lys)	LOC126859938, USP42 (N548K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187618	NM_032172.3(USP42):c.1649C>G (p.Thr550Ser)	LOC126859938, USP42 (T550S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598525	NM_032172.3(USP42):c.1657G>A (p.Val553Ile)	LOC126859938, USP42 (V553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187619	NM_032172.3(USP42):c.1666T>C (p.Ser556Pro)	LOC126859938, USP42 (S556P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287243	NM_032172.3(USP42):c.1667C>G (p.Ser556Cys)	LOC126859938, USP42 (S556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470649	NM_032172.3(USP42):c.1712C>T (p.Thr571Met)	LOC126859938, USP42 (T571M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187620	NM_032172.3(USP42):c.1723T>A (p.Ser575Thr)	LOC126859938, USP42 (S575T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377317	NM_032172.3(USP42):c.1742C>T (p.Pro581Leu)	LOC126859938, USP42 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331566	NM_032172.3(USP42):c.1748C>G (p.Pro583Arg)	LOC126859938, USP42 (P583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187621	NM_032172.3(USP42):c.1750C>T (p.Arg584Cys)	LOC126859938, USP42 (R584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403634	NM_032172.3(USP42):c.1807G>A (p.Val603Met)	LOC126859938, USP42 (V603M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331581	NM_032172.3(USP42):c.1828G>A (p.Glu610Lys)	LOC126859938, USP42 (E610K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474564	NM_032172.3(USP42):c.1849G>A (p.Glu617Lys)	LOC126859938, USP42 (E617K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409466	NM_032172.3(USP42):c.1889C>T (p.Thr630Met)	LOC126859938, USP42 (T630M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331565	NM_032172.3(USP42):c.1912G>A (p.Gly638Ser)	LOC126859938, USP42 (G638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187622	NM_032172.3(USP42):c.1943C>T (p.Pro648Leu)	LOC126859938, USP42 (P648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600554	NM_032172.3(USP42):c.2006C>T (p.Pro669Leu)	LOC126859938, USP42 (P669L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343650	NM_032172.3(USP42):c.2026C>T (p.Pro676Ser)	LOC126859938, USP42 (P676S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187624	NM_032172.3(USP42):c.2063A>C (p.His688Pro)	LOC126859938, USP42 (H688P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187625	NM_032172.3(USP42):c.2065T>G (p.Ser689Ala)	LOC126859938, USP42 (S689A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316172	NM_032172.3(USP42):c.2089A>G (p.Asn697Asp)	LOC126859938, USP42 (N697D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362258	NM_032172.3(USP42):c.2189C>T (p.Thr730Met)	LOC126859938, USP42 (T730M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33