Related gene-specific medical variations for Gene (Select 100137047) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3034479	NM_001114632.2(JMJD7):c.153G>A (p.Pro51=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-related disorder	GBenign
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 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 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 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 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 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 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 787425	NM_001114632.2(JMJD7):c.471G>T (p.Leu157=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 711107	NM_001114632.2(JMJD7):c.83C>G (p.Ala28Gly)	JMJD7, JMJD7-PLA2G4B (A28G)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 21