"PreventionGenetics, part of Exact Sciences"[submitter] AND "PNPLA8"[g - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2178428	NM_001256007.3(PNPLA8):c.1854T>C (p.Tyr618=)	PNPLA8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 772890	NM_001256007.3(PNPLA8):c.1135T>G (p.Cys379Gly)	PNPLA8 (C279G +1 more)	Single nucleotide variant (missense variant)	PNPLA8-related disorder +1 more	GLikely benign
Select item 3053668	NM_001256007.3(PNPLA8):c.1062C>T (p.Ile354=)	PNPLA8	Single nucleotide variant (synonymous variant)	PNPLA8-related disorder	GLikely benign
Select item 2636474	NM_001256007.3(PNPLA8):c.1033C>G (p.Arg345Gly)	PNPLA8 (R245G +1 more)	Single nucleotide variant (missense variant)	PNPLA8-related disorder	GUncertain significance
Select item 2045130	NM_001256007.3(PNPLA8):c.892G>A (p.Val298Ile)	PNPLA8 (V298I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 712682	NM_001256007.3(PNPLA8):c.830A>T (p.Asp277Val)	PNPLA8 (D177V +1 more)	Single nucleotide variant (missense variant)	PNPLA8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3049033	NM_001256007.3(PNPLA8):c.780A>T (p.Ser260=)	PNPLA8	Single nucleotide variant (synonymous variant)	PNPLA8-related disorder	GLikely benign
Select item 634462	NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys)	PNPLA8 (R187C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2636356	NM_001256007.3(PNPLA8):c.533T>C (p.Ile178Thr)	PNPLA8 (I178T +1 more)	Single nucleotide variant (missense variant)	PNPLA8-related disorder	GUncertain significance
Select item 2632596	NM_001256007.3(PNPLA8):c.86delinsAA (p.Leu29fs)	PNPLA8 (L29fs)	Indel (frameshift variant +1 more)	PNPLA8-related disorder	GLikely pathogenic