Related gene-specific medical variations for Gene (Select 161291) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327072	NM_001017970.3(TMEM30B):c.932G>A (p.Gly311Asp)	PRKCH, TMEM30B (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327071	NM_001017970.3(TMEM30B):c.640G>T (p.Gly214Cys)	PRKCH, TMEM30B (G214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327070	NM_001017970.3(TMEM30B):c.160T>C (p.Tyr54His)	PRKCH, TMEM30B (Y54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327069	NM_001017970.3(TMEM30B):c.461C>T (p.Ala154Val)	PRKCH, TMEM30B (A154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327068	NM_001017970.3(TMEM30B):c.1042G>A (p.Asp348Asn)	PRKCH, TMEM30B (D348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250561	NM_001017970.3(TMEM30B):c.342G>A (p.Leu114=)	PRKCH, TMEM30B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3179434	NM_001017970.3(TMEM30B):c.898A>C (p.Lys300Gln)	PRKCH, TMEM30B (K300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179433	NM_001017970.3(TMEM30B):c.806T>G (p.Ile269Ser)	PRKCH, TMEM30B (I269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179432	NM_001017970.3(TMEM30B):c.790A>G (p.Lys264Glu)	PRKCH, TMEM30B (K264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179431	NM_001017970.3(TMEM30B):c.679C>T (p.Pro227Ser)	PRKCH, TMEM30B (P227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179430	NM_001017970.3(TMEM30B):c.637A>G (p.Asn213Asp)	PRKCH, TMEM30B (N213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179429	NM_001017970.3(TMEM30B):c.629C>T (p.Pro210Leu)	PRKCH, TMEM30B (P210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179428	NM_001017970.3(TMEM30B):c.407T>G (p.Leu136Arg)	PRKCH, TMEM30B (L136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179427	NM_001017970.3(TMEM30B):c.349T>C (p.Phe117Leu)	PRKCH, TMEM30B (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179426	NM_001017970.3(TMEM30B):c.334T>G (p.Tyr112Asp)	PRKCH, TMEM30B (Y112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179425	NM_001017970.3(TMEM30B):c.314A>G (p.Gln105Arg)	PRKCH, TMEM30B (Q105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179424	NM_001017970.3(TMEM30B):c.19G>A (p.Ala7Thr)	PRKCH, TMEM30B (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681613	NM_001017970.3(TMEM30B):c.836C>T (p.Pro279Leu)	PRKCH, TMEM30B (P279L)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2608307	NM_001017970.3(TMEM30B):c.912C>A (p.Phe304Leu)	PRKCH, TMEM30B (F304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608306	NM_001017970.3(TMEM30B):c.398T>C (p.Leu133Pro)	PRKCH, TMEM30B (L133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600811	NM_001017970.3(TMEM30B):c.740A>G (p.Asn247Ser)	PRKCH, TMEM30B (N247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594543	NM_001017970.3(TMEM30B):c.844G>T (p.Ala282Ser)	PRKCH, TMEM30B (A282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569570	NM_001017970.3(TMEM30B):c.532C>T (p.His178Tyr)	PRKCH, TMEM30B (H178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547077	NM_001017970.3(TMEM30B):c.551G>A (p.Gly184Glu)	PRKCH, TMEM30B (G184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492774	NM_001017970.3(TMEM30B):c.892G>A (p.Gly298Ser)	PRKCH, TMEM30B (G298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489024	NM_001017970.3(TMEM30B):c.457A>T (p.Ser153Cys)	PRKCH, TMEM30B (S153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408620	NM_001017970.3(TMEM30B):c.334T>C (p.Tyr112His)	PRKCH, TMEM30B (Y112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403894	NM_001017970.3(TMEM30B):c.146T>G (p.Leu49Arg)	PRKCH, TMEM30B (L49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399222	NM_001017970.3(TMEM30B):c.773C>T (p.Ala258Val)	PRKCH, TMEM30B (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366324	NM_001017970.3(TMEM30B):c.124G>T (p.Ala42Ser)	PRKCH, TMEM30B (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363182	NM_001017970.3(TMEM30B):c.827C>T (p.Ala276Val)	PRKCH, TMEM30B (A276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357776	NM_001017970.3(TMEM30B):c.1032C>A (p.Asp344Glu)	PRKCH, TMEM30B (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334740	NM_001017970.3(TMEM30B):c.283G>A (p.Ala95Thr)	PRKCH, TMEM30B (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326840	NM_001017970.3(TMEM30B):c.446C>T (p.Pro149Leu)	PRKCH, TMEM30B (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301708	NM_001017970.3(TMEM30B):c.190G>C (p.Glu64Gln)	PRKCH, TMEM30B (E64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279888	NM_001017970.3(TMEM30B):c.782C>G (p.Thr261Arg)	PRKCH, TMEM30B (T261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224404	NM_001017970.3(TMEM30B):c.538C>T (p.Arg180Cys)	PRKCH, TMEM30B (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 37