Related gene-specific medical variations for Gene (Select 65094) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287203	NM_023007.3(JMJD4):c.1235A>T (p.Asp412Val)	JMJD4, SNAP47 (D396V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287202	NM_023007.3(JMJD4):c.635C>T (p.Pro212Leu)	JMJD4, SNAP47 (P212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287201	NM_023007.3(JMJD4):c.749C>T (p.Pro250Leu)	JMJD4, SNAP47 (P250L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287200	NM_023007.3(JMJD4):c.1034C>T (p.Ala345Val)	JMJD4, SNAP47 (A329V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112345	NM_023007.3(JMJD4):c.823G>T (p.Asp275Tyr)	JMJD4, SNAP47 (D275Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112344	NM_023007.3(JMJD4):c.728G>A (p.Arg243Gln)	JMJD4, SNAP47 (R243Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112343	NM_023007.3(JMJD4):c.671G>A (p.Gly224Asp)	JMJD4, SNAP47 (G224D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112342	NM_023007.3(JMJD4):c.535G>T (p.Ala179Ser)	JMJD4, SNAP47 (A179S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112341	NM_023007.3(JMJD4):c.437C>T (p.Pro146Leu)	JMJD4, SNAP47 (P146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112340	NM_023007.3(JMJD4):c.361G>A (p.Glu121Lys)	JMJD4, SNAP47 (E121K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112339	NM_023007.3(JMJD4):c.119C>T (p.Ser40Phe)	JMJD4, SNAP47 (S40F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112338	NM_023007.3(JMJD4):c.25G>A (p.Ala9Thr)	JMJD4, SNAP47 (A9T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112337	NM_023007.3(JMJD4):c.20C>G (p.Ala7Gly)	JMJD4, SNAP47 (A7G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112336	NM_023007.3(JMJD4):c.1218G>T (p.Gln406His)	JMJD4, SNAP47 (Q406H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112335	NM_023007.3(JMJD4):c.1159G>A (p.Asp387Asn)	JMJD4, SNAP47 (D387N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112334	NM_023007.3(JMJD4):c.1121G>A (p.Arg374His)	JMJD4, SNAP47 (R358H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623878	NM_023007.3(JMJD4):c.1130A>G (p.Glu377Gly)	JMJD4, SNAP47 (E361G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562763	NM_023007.3(JMJD4):c.332C>T (p.Thr111Ile)	JMJD4, SNAP47 (T111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540971	NM_023007.3(JMJD4):c.-8T>G	JMJD4, SNAP47	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2512484	NM_023007.3(JMJD4):c.205C>T (p.Arg69Trp)	JMJD4, SNAP47 (R69W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2477581	NM_023007.3(JMJD4):c.675C>A (p.Asn225Lys)	JMJD4, SNAP47 (N225K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406752	NM_023007.3(JMJD4):c.-11T>C	JMJD4, SNAP47	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399805	NM_023007.3(JMJD4):c.883C>T (p.Arg295Cys)	JMJD4, SNAP47 (R295C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384348	NM_023007.3(JMJD4):c.76G>T (p.Ala26Ser)	JMJD4, SNAP47 (A26S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371408	NM_023007.3(JMJD4):c.1151C>T (p.Ala384Val)	JMJD4, SNAP47 (A368V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368698	NM_023007.3(JMJD4):c.541C>A (p.Pro181Thr)	JMJD4, SNAP47 (P181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358691	NM_023007.3(JMJD4):c.328A>T (p.Met110Leu)	JMJD4, SNAP47 (M110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353722	NM_023007.3(JMJD4):c.1211T>A (p.Leu404Gln)	JMJD4, SNAP47 (L388Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320914	NM_023007.3(JMJD4):c.479A>G (p.Asp160Gly)	JMJD4, SNAP47 (D160G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319142	NM_023007.3(JMJD4):c.1183G>A (p.Ala395Thr)	JMJD4, SNAP47 (A395T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285235	NM_023007.3(JMJD4):c.1132G>A (p.Val378Met)	JMJD4, SNAP47 (V362M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284747	NM_023007.3(JMJD4):c.947C>A (p.Pro316His)	JMJD4, SNAP47 (P316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283686	NM_023007.3(JMJD4):c.536C>T (p.Ala179Val)	JMJD4, SNAP47 (A179V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2282852	NM_023007.3(JMJD4):c.1021C>T (p.Leu341Phe)	JMJD4, SNAP47 (L325F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278165	NM_023007.3(JMJD4):c.986G>C (p.Cys329Ser)	JMJD4, SNAP47 (C313S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235589	NM_023007.3(JMJD4):c.1147G>A (p.Val383Ile)	JMJD4, SNAP47 (V383I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230003	NM_023007.3(JMJD4):c.386C>T (p.Ser129Phe)	JMJD4, SNAP47 (S129F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215368	NM_023007.3(JMJD4):c.16C>T (p.Arg6Cys)	JMJD4, SNAP47 (R6C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2211664	NM_023007.3(JMJD4):c.136C>T (p.Arg46Trp)	JMJD4, SNAP47 (R46W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 778255	NM_023007.3(JMJD4):c.684C>T (p.Tyr228=)	JMJD4, SNAP47	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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Links from Gene

Items: 40