JMJD7-PLA2G4B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 3050244	NM_001114632.2(JMJD7):c.-5C>A	JMJD7, JMJD7-PLA2G4B +1 more	Single nucleotide variant (5 prime UTR variant)	JMJD7-related disorder	GLikely benign
Select item 3056209	NM_005090.4(JMJD7-PLA2G4B):c.20A>G (p.Glu7Gly)	JMJD7, JMJD7-PLA2G4B +1 more (E7G)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3112404	NM_005090.4(JMJD7-PLA2G4B):c.34G>C (p.Glu12Gln)	JMJD7, JMJD7-PLA2G4B +1 more (E12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731633	NM_001114632.2(JMJD7):c.50C>T (p.Pro17Leu)	JMJD7, JMJD7-PLA2G4B +1 more (P17L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2342031	NM_001114632.2(JMJD7):c.66G>T (p.Glu22Asp)	JMJD7, JMJD7-PLA2G4B (E22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711107	NM_001114632.2(JMJD7):c.83C>G (p.Ala28Gly)	JMJD7, JMJD7-PLA2G4B (A28G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3034479	NM_001114632.2(JMJD7):c.153G>A (p.Pro51=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-related disorder	GBenign
Select item 2374400	NM_005090.4(JMJD7-PLA2G4B):c.253G>A (p.Val85Met)	JMJD7, JMJD7-PLA2G4B (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047744	NM_001114632.2(JMJD7):c.273G>A (p.Ala91=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-related disorder	GLikely benign
Select item 2315298	NM_005090.4(JMJD7-PLA2G4B):c.292C>T (p.Arg98Cys)	JMJD7, JMJD7-PLA2G4B (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035070	NM_001114632.2(JMJD7):c.343G>A (p.Val115Met)	JMJD7, JMJD7-PLA2G4B (V115M)	Single nucleotide variant (missense variant)	JMJD7-related disorder	GLikely benign
Select item 3057053	NM_005090.4(JMJD7-PLA2G4B):c.444C>T (p.Ser148=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 787425	NM_001114632.2(JMJD7):c.471G>T (p.Leu157=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260629	NM_001114632.2(JMJD7):c.738C>G (p.Asp246Glu)	JMJD7, JMJD7-PLA2G4B (D246E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055559	NM_001114632.2(JMJD7):c.779G>A (p.Arg260His)	JMJD7, JMJD7-PLA2G4B (R260H)	Single nucleotide variant (missense variant +1 more)	JMJD7-related disorder	GLikely benign
Select item 3287207	NM_001114632.2(JMJD7):c.805C>G (p.Leu269Val)	JMJD7, JMJD7-PLA2G4B (L269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294729	NM_001114632.2(JMJD7):c.829C>T (p.His277Tyr)	JMJD7, JMJD7-PLA2G4B (H277Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287206	NM_001114632.2(JMJD7):c.904T>A (p.Tyr302Asn)	JMJD7, JMJD7-PLA2G4B (Y302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525960	NM_001114632.2(JMJD7):c.919G>T (p.Asp307Tyr)	JMJD7, JMJD7-PLA2G4B (D307Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311110	NM_001114632.2(JMJD7):c.925C>G (p.Leu309Val)	JMJD7, JMJD7-PLA2G4B (L309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046306	NM_005090.4(JMJD7-PLA2G4B):c.702+611C>T	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (3 prime UTR variant +1 more)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112405	NM_005090.4(JMJD7-PLA2G4B):c.751C>G (p.His251Asp)	JMJD7-PLA2G4B, PLA2G4B (H20D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043511	NM_001114633.2(PLA2G4B):c.83-5C>T	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	PLA2G4B-related disorder	GBenign
Select item 3112406	NM_005090.4(JMJD7-PLA2G4B):c.779C>T (p.Thr260Ile)	JMJD7-PLA2G4B, PLA2G4B (T260I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112407	NM_005090.4(JMJD7-PLA2G4B):c.794A>G (p.Tyr265Cys)	JMJD7-PLA2G4B, PLA2G4B (Y265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052772	NM_001114633.2(PLA2G4B):c.102C>T (p.Tyr34=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	PLA2G4B-related disorder	GLikely benign
Select item 3112408	NM_005090.4(JMJD7-PLA2G4B):c.824G>A (p.Ser275Asn)	JMJD7-PLA2G4B, PLA2G4B (S275N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112409	NM_005090.4(JMJD7-PLA2G4B):c.841C>T (p.Arg281Cys)	JMJD7-PLA2G4B, PLA2G4B (R281C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112410	NM_005090.4(JMJD7-PLA2G4B):c.845C>T (p.Thr282Met)	JMJD7-PLA2G4B, PLA2G4B (T51M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112411	NM_005090.4(JMJD7-PLA2G4B):c.892A>G (p.Arg298Gly)	JMJD7-PLA2G4B, PLA2G4B (R67G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112412	NM_005090.4(JMJD7-PLA2G4B):c.914A>G (p.Asn305Ser)	JMJD7-PLA2G4B, PLA2G4B (N305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112413	NM_005090.4(JMJD7-PLA2G4B):c.920T>C (p.Met307Thr)	JMJD7-PLA2G4B, PLA2G4B (M307T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112414	NM_005090.4(JMJD7-PLA2G4B):c.976G>A (p.Val326Ile)	JMJD7-PLA2G4B, PLA2G4B (V326I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034528	NM_005090.4(JMJD7-PLA2G4B):c.997C>T (p.Leu333=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112352	NM_005090.4(JMJD7-PLA2G4B):c.1007G>C (p.Gly336Ala)	JMJD7-PLA2G4B, PLA2G4B (G105A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600790	NM_001114633.2(PLA2G4B):c.323G>A (p.Arg108Gln)	JMJD7-PLA2G4B, PLA2G4B (R108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112353	NM_005090.4(JMJD7-PLA2G4B):c.1019G>A (p.Arg340His)	JMJD7-PLA2G4B, PLA2G4B (R109H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3053479	NM_001114633.2(PLA2G4B):c.382C>T (p.Leu128=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	PLA2G4B-related disorder	GLikely benign
Select item 3112354	NM_005090.4(JMJD7-PLA2G4B):c.1097G>T (p.Gly366Val)	JMJD7-PLA2G4B, PLA2G4B (G135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645198	NM_001114633.2(PLA2G4B):c.414C>T (p.Leu138=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3112355	NM_005090.4(JMJD7-PLA2G4B):c.1108G>A (p.Val370Ile)	JMJD7-PLA2G4B, PLA2G4B (V139I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726643	NM_001114633.2(PLA2G4B):c.420C>T (p.Ser140=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3112356	NM_005090.4(JMJD7-PLA2G4B):c.1120G>A (p.Val374Ile)	JMJD7-PLA2G4B, PLA2G4B (V143I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112357	NM_005090.4(JMJD7-PLA2G4B):c.1133G>A (p.Arg378Gln)	JMJD7-PLA2G4B, PLA2G4B (R147Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112358	NM_005090.4(JMJD7-PLA2G4B):c.1150C>T (p.His384Tyr)	JMJD7-PLA2G4B, PLA2G4B (H384Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048223	NM_001114633.2(PLA2G4B):c.459C>T (p.His153=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	PLA2G4B-related disorder	GBenign
Select item 3045680	NM_005090.4(JMJD7-PLA2G4B):c.1153G>A (p.Val385Ile)	JMJD7-PLA2G4B, PLA2G4B (V154I +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3112359	NM_005090.4(JMJD7-PLA2G4B):c.1171G>A (p.Gly391Arg)	JMJD7-PLA2G4B, PLA2G4B (G391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040803	NM_005090.4(JMJD7-PLA2G4B):c.1184-6T>C	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112360	NM_005090.4(JMJD7-PLA2G4B):c.1252A>C (p.Thr418Pro)	JMJD7-PLA2G4B, PLA2G4B (T187P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112361	NM_005090.4(JMJD7-PLA2G4B):c.1253C>G (p.Thr418Ser)	JMJD7-PLA2G4B, PLA2G4B (T187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059567	NM_005090.4(JMJD7-PLA2G4B):c.1264C>T (p.Arg422Cys)	JMJD7-PLA2G4B, PLA2G4B (R191C +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3112362	NM_005090.4(JMJD7-PLA2G4B):c.1284C>G (p.Cys428Trp)	JMJD7-PLA2G4B, PLA2G4B (C428W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112363	NM_005090.4(JMJD7-PLA2G4B):c.1324G>A (p.Glu442Lys)	JMJD7-PLA2G4B, PLA2G4B (E211K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042686	NM_005090.4(JMJD7-PLA2G4B):c.1376G>T (p.Arg459Met)	JMJD7-PLA2G4B, PLA2G4B (R228M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043178	NM_001114633.2(PLA2G4B):c.688G>C (p.Val230Leu)	JMJD7-PLA2G4B, PLA2G4B (V230L +1 more)	Single nucleotide variant (missense variant)	PLA2G4B-related disorder	GBenign
Select item 2645199	NM_001114633.2(PLA2G4B):c.699G>A (p.Thr233=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047132	NM_005090.4(JMJD7-PLA2G4B):c.1410G>A (p.Met470Ile)	JMJD7-PLA2G4B, PLA2G4B (M239I +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112365	NM_005090.4(JMJD7-PLA2G4B):c.1463G>A (p.Gly488Asp)	JMJD7-PLA2G4B, PLA2G4B (G257D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112366	NM_005090.4(JMJD7-PLA2G4B):c.1490C>A (p.Ala497Asp)	JMJD7-PLA2G4B, PLA2G4B (A266D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112367	NM_005090.4(JMJD7-PLA2G4B):c.1535A>G (p.Gln512Arg)	JMJD7-PLA2G4B, PLA2G4B (Q512R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059769	NM_005090.4(JMJD7-PLA2G4B):c.1551C>T (p.Asp517=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3049805	NM_005090.4(JMJD7-PLA2G4B):c.1573-9_1573-7del	JMJD7-PLA2G4B, PLA2G4B	Microsatellite (intron variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3053374	NM_005090.4(JMJD7-PLA2G4B):c.1573-4C>G	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3043559	NM_005090.4(JMJD7-PLA2G4B):c.1608G>C (p.Gly536=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112368	NM_005090.4(JMJD7-PLA2G4B):c.1612C>T (p.Arg538Trp)	JMJD7-PLA2G4B, PLA2G4B (R307W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112369	NM_005090.4(JMJD7-PLA2G4B):c.1661G>A (p.Gly554Asp)	JMJD7-PLA2G4B, PLA2G4B (G554D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605691	NM_005090.4(JMJD7-PLA2G4B):c.1663C>T (p.Leu555Phe)	JMJD7-PLA2G4B, PLA2G4B (L555F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043749	NM_001114633.2(PLA2G4B):c.982G>A (p.Val328Ile)	JMJD7-PLA2G4B, PLA2G4B (V328I +1 more)	Single nucleotide variant (missense variant)	PLA2G4B-related disorder	GLikely benign
Select item 3112370	NM_005090.4(JMJD7-PLA2G4B):c.1686C>G (p.Ile562Met)	JMJD7-PLA2G4B, PLA2G4B (I562M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112371	NM_005090.4(JMJD7-PLA2G4B):c.1690G>A (p.Gly564Arg)	JMJD7-PLA2G4B, PLA2G4B (G333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035345	NM_005090.4(JMJD7-PLA2G4B):c.1710-25TGGCTT[2]	JMJD7-PLA2G4B, PLA2G4B	Microsatellite (intron variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3112372	NM_005090.4(JMJD7-PLA2G4B):c.1772A>C (p.Glu591Ala)	JMJD7-PLA2G4B, PLA2G4B (E360A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112373	NM_005090.4(JMJD7-PLA2G4B):c.1807G>A (p.Gly603Ser)	JMJD7-PLA2G4B, PLA2G4B (G603S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112374	NM_005090.4(JMJD7-PLA2G4B):c.1813C>G (p.Leu605Val)	JMJD7-PLA2G4B, PLA2G4B (L605V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047557	NM_005090.4(JMJD7-PLA2G4B):c.1816G>T (p.Ala606Ser)	JMJD7-PLA2G4B, PLA2G4B (A375S +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112375	NM_005090.4(JMJD7-PLA2G4B):c.1834C>T (p.Arg612Trp)	JMJD7-PLA2G4B, PLA2G4B (R381W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112376	NM_005090.4(JMJD7-PLA2G4B):c.1835G>A (p.Arg612Gln)	JMJD7-PLA2G4B, PLA2G4B (R612Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287208	NM_005090.4(JMJD7-PLA2G4B):c.1841G>A (p.Arg614Gln)	JMJD7-PLA2G4B, PLA2G4B (R383Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3050265	NM_005090.4(JMJD7-PLA2G4B):c.1865G>A (p.Arg622His)	JMJD7-PLA2G4B, PLA2G4B (R391H +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3057485	NM_005090.4(JMJD7-PLA2G4B):c.1887C>T (p.Phe629=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112377	NM_005090.4(JMJD7-PLA2G4B):c.1910A>G (p.Asn637Ser)	JMJD7-PLA2G4B, PLA2G4B (N406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033105	NM_005090.4(JMJD7-PLA2G4B):c.1932+4C>T	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (intron variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112378	NM_005090.4(JMJD7-PLA2G4B):c.1948C>G (p.Leu650Val)	JMJD7-PLA2G4B, PLA2G4B (L650V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112380	NM_005090.4(JMJD7-PLA2G4B):c.2008C>T (p.Leu670Phe)	JMJD7-PLA2G4B, PLA2G4B (L439F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112379	NM_005090.4(JMJD7-PLA2G4B):c.2008C>G (p.Leu670Val)	JMJD7-PLA2G4B, PLA2G4B (L439V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035502	NM_005090.4(JMJD7-PLA2G4B):c.2048G>T (p.Gly683Val)	JMJD7-PLA2G4B, PLA2G4B (G452V +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112381	NM_005090.4(JMJD7-PLA2G4B):c.2057G>A (p.Cys686Tyr)	JMJD7-PLA2G4B, PLA2G4B (C455Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112382	NM_005090.4(JMJD7-PLA2G4B):c.2059G>A (p.Glu687Lys)	JMJD7-PLA2G4B, PLA2G4B (E456K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042553	NM_005090.4(JMJD7-PLA2G4B):c.2073C>T (p.Tyr691=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3038916	NM_005090.4(JMJD7-PLA2G4B):c.2124C>G (p.Gly708=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112383	NM_005090.4(JMJD7-PLA2G4B):c.2260T>A (p.Trp754Arg)	JMJD7-PLA2G4B, PLA2G4B (W523R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112384	NM_005090.4(JMJD7-PLA2G4B):c.2266C>T (p.Arg756Cys)	JMJD7-PLA2G4B, PLA2G4B (R756C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357933	NM_001114633.2(PLA2G4B):c.1609C>G (p.Gln537Glu)	JMJD7-PLA2G4B, PLA2G4B (Q768E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046275	NM_005090.4(JMJD7-PLA2G4B):c.2315T>G (p.Leu772Arg)	JMJD7-PLA2G4B, PLA2G4B (L541R +1 more)	Single nucleotide variant (missense variant)	JMJD7-PLA2G4B-related disorder	GLikely benign
Select item 3112385	NM_005090.4(JMJD7-PLA2G4B):c.2322A>G (p.Ile774Met)	JMJD7-PLA2G4B, PLA2G4B (I543M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058978	NM_005090.4(JMJD7-PLA2G4B):c.2349G>A (p.Arg783=)	JMJD7-PLA2G4B, PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-PLA2G4B-related disorder	GBenign
Select item 3112387	NM_005090.4(JMJD7-PLA2G4B):c.2368G>C (p.Asp790His)	JMJD7-PLA2G4B, PLA2G4B (D559H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112386	NM_005090.4(JMJD7-PLA2G4B):c.2368G>A (p.Asp790Asn)	JMJD7-PLA2G4B, PLA2G4B (D790N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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