"JMJD7-PLA2G4B-related disorder"[Disease/phenotype] AND "PreventionGen - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056209	NM_001114632.2(JMJD7):c.20A>G (p.Glu7Gly)	JMJD7, JMJD7-PLA2G4B +1 more (E7G)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3057053	NM_001114632.2(JMJD7):c.444C>T (p.Ser148=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3046306	NM_001114632.2(JMJD7):c.*6C>T	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (3 prime UTR variant +1 more)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3034528	NM_001114633.2(PLA2G4B):c.304C>T (p.Leu102=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 726643	NM_001114633.2(PLA2G4B):c.420C>T (p.Ser140=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder +1 more	GBenign
Select item 3045680	NM_001114633.2(PLA2G4B):c.460G>A (p.Val154Ile)	JMJD7-PLA2G4B, PLA2G4B (V154I +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3040803	NM_001114633.2(PLA2G4B):c.491-6T>C	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3059567	NM_001114633.2(PLA2G4B):c.571C>T (p.Arg191Cys)	JMJD7-PLA2G4B, PLA2G4B (R191C +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3042686	NM_001114633.2(PLA2G4B):c.683G>T (p.Arg228Met)	JMJD7-PLA2G4B, PLA2G4B (R228M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3047132	NM_001114633.2(PLA2G4B):c.717G>A (p.Met239Ile)	JMJD7-PLA2G4B, PLA2G4B (M239I +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3059769	NM_001114633.2(PLA2G4B):c.858C>T (p.Asp286=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3049805	NM_001114633.2(PLA2G4B):c.880-9_880-7del	JMJD7-PLA2G4B, PLA2G4B	Microsatellite (intron variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3053374	NM_001114633.2(PLA2G4B):c.880-4C>G	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3043559	NM_001114633.2(PLA2G4B):c.915G>C (p.Gly305=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3035345	NM_001114633.2(PLA2G4B):c.1017-25TGGCTT[2]	JMJD7-PLA2G4B, PLA2G4B	Microsatellite (intron variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3047557	NM_001114633.2(PLA2G4B):c.1123G>T (p.Ala375Ser)	JMJD7-PLA2G4B, PLA2G4B (A375S +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3050265	NM_001114633.2(PLA2G4B):c.1172G>A (p.Arg391His)	JMJD7-PLA2G4B, PLA2G4B (R391H +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3057485	NM_001114633.2(PLA2G4B):c.1194C>T (p.Phe398=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3033105	NM_001114633.2(PLA2G4B):c.1239+4C>T	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3035502	NM_001114633.2(PLA2G4B):c.1355G>T (p.Gly452Val)	JMJD7-PLA2G4B, PLA2G4B (G452V +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3042553	NM_001114633.2(PLA2G4B):c.1380C>T (p.Tyr460=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3038916	NM_001114633.2(PLA2G4B):c.1431C>G (p.Gly477=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3046275	NM_001114633.2(PLA2G4B):c.1622T>G (p.Leu541Arg)	PLA2G4B, JMJD7-PLA2G4B (L541R +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3058978	NM_001114633.2(PLA2G4B):c.1656G>A (p.Arg552=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3043477	NM_001114633.2(PLA2G4B):c.1686G>A (p.Thr562=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3050013	NM_001114633.2(PLA2G4B):c.1772C>T (p.Thr591Ile)	JMJD7-PLA2G4B, PLA2G4B (T591I +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3055788	NM_001114633.2(PLA2G4B):c.1773A>C (p.Thr591=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3059555	NM_001114633.2(PLA2G4B):c.1947+5G>A	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3044931	NM_001114633.2(PLA2G4B):c.2017G>A (p.Glu673Lys)	JMJD7-PLA2G4B, PLA2G4B (E673K +1 more)	Single nucleotide variant (missense variant +1 more)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3050399	NM_001114633.2(PLA2G4B):c.2047A>C (p.Thr683Pro)	JMJD7-PLA2G4B, PLA2G4B (T683P +1 more)	Single nucleotide variant (missense variant +1 more)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3059773	NM_001114633.2(PLA2G4B):c.2055C>T (p.Ser685=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant +1 more)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3050051	NM_001114633.2(PLA2G4B):c.2163A>G (p.Ala721=)	JMJD7-PLA2G4B, PLA2G4B (Q890R)	Single nucleotide variant (synonymous variant +1 more)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3053598	NM_001114633.2(PLA2G4B):c.2190G>A (p.Ser730=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant +1 more)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3052076	NM_001114633.2(PLA2G4B):c.2301T>C (p.Ala767=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant +1 more)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 983095	NM_001114633.2(PLA2G4B):c.2305C>T (p.Arg769Cys)	JMJD7-PLA2G4B, PLA2G4B (R1000C +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 3046758	NM_001114633.2(PLA2G4B):c.2307C>G (p.Arg769=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant +1 more)	JMJD7-PLA2G4B-related disorder	GLikely benign

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Items: 36