"Ambry Genetics"[submitter] AND "FXYD5"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2302307	NM_014164.6(FXYD5):c.5C>T (p.Ser2Leu)	FXYD5, LOC130064208 (S2L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227802	NM_014164.6(FXYD5):c.17G>A (p.Arg6His)	FXYD5, LOC130064208 (R6H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554063	NM_014164.6(FXYD5):c.25C>G (p.Leu9Val)	FXYD5, LOC130064208 (L9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341034	NM_014164.6(FXYD5):c.134G>A (p.Arg45Gln)	FXYD5 (R45Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2552088	NM_014164.6(FXYD5):c.310A>C (p.Thr104Pro)	FXYD5 (T73P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352209	NM_014164.6(FXYD5):c.361C>T (p.Pro121Ser)	FXYD5 (P90S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219046	NM_014164.6(FXYD5):c.418C>T (p.His140Tyr)	FXYD5 (H140Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398167	NM_014164.6(FXYD5):c.427C>T (p.Arg143Trp)	FXYD5 (R112W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210377	NM_014164.6(FXYD5):c.512G>A (p.Arg171Gln)	FXYD5 (R140Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign