Related gene-specific medical variations for Gene (Select 84132) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3187624	NM_032172.3(USP42):c.2063A>C (p.His688Pro)	LOC126859938, USP42 (H688P)	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 3187621	NM_032172.3(USP42):c.1750C>T (p.Arg584Cys)	LOC126859938, USP42 (R584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3187619	NM_032172.3(USP42):c.1666T>C (p.Ser556Pro)	LOC126859938, USP42 (S556P)	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 3187617	NM_032172.3(USP42):c.1625A>G (p.His542Arg)	LOC126859938, USP42 (H542R)	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 3187615	NM_032172.3(USP42):c.1598G>T (p.Arg533Leu)	LOC126859938, USP42 (R533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2600554	NM_032172.3(USP42):c.2006C>T (p.Pro669Leu)	LOC126859938, USP42 (P669L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2598525	NM_032172.3(USP42):c.1657G>A (p.Val553Ile)	LOC126859938, USP42 (V553I)	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 2470649	NM_032172.3(USP42):c.1712C>T (p.Thr571Met)	LOC126859938, USP42 (T571M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2403634	NM_032172.3(USP42):c.1807G>A (p.Val603Met)	LOC126859938, USP42 (V603M)	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 2362258	NM_032172.3(USP42):c.2189C>T (p.Thr730Met)	LOC126859938, USP42 (T730M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2343650	NM_032172.3(USP42):c.2026C>T (p.Pro676Ser)	LOC126859938, USP42 (P676S)	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 2299117	NM_032172.3(USP42):c.1562A>G (p.Lys521Arg)	LOC126859938, USP42 (K521R)	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 2279658	NM_032172.3(USP42):c.1644C>A (p.Asn548Lys)	LOC126859938, USP42 (N548K)	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 2230310	NM_032172.3(USP42):c.1420A>C (p.Lys474Gln)	LOC126859938, USP42 (K474Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776596	NM_032172.3(USP42):c.1884T>A (p.Ile628=)	LOC126859938, USP42	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29