"JMJD7-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3034479	NM_001114632.2(JMJD7):c.153G>A (p.Pro51=)	JMJD7, JMJD7-PLA2G4B	Single nucleotide variant (synonymous variant)	JMJD7-related disorder	GBenign
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 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 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

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