ClinVar for MedGen (Select 163198) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498171	NM_001128225.3(SLC39A13):c.682G>C (p.Asp228His)	SLC39A13 (D228H)	Single nucleotide variant (missense variant +1 more)	Fine-Lubinsky syndrome	GUncertain significance
Select item 2498157	NM_005336.6(HDLBP):c.1731+1G>A	HDLBP	Single nucleotide variant (splice donor variant)	Fine-Lubinsky syndrome	GUncertain significance
Select item 2498156	NM_001395413.1(POR):c.1484G>C (p.Arg495Pro)	POR (R445P +3 more)	Single nucleotide variant (missense variant)	Fine-Lubinsky syndrome	GLikely pathogenic

Format

Sort by

Choose Destination