Related gene-specific medical variations for Gene (Select 8228) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308177	NM_004650.3(PNPLA4):c.83A>T (p.His28Leu)	LOC125446266, PNPLA4 (H28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216053	NM_004650.3(PNPLA4):c.352G>A (p.Ala118Thr)	LOC126863198, PNPLA4 (A31T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216052	NM_004650.3(PNPLA4):c.349A>G (p.Asn117Asp)	LOC126863198, PNPLA4 (N30D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216051	NM_004650.3(PNPLA4):c.250G>A (p.Gly84Ser)	LOC126863198, PNPLA4 (G84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216050	NM_004650.3(PNPLA4):c.124G>A (p.Ala42Thr)	LOC125446266, PNPLA4 (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659924	NM_004650.3(PNPLA4):c.23T>C (p.Phe8Ser)	LOC125446266, PNPLA4 (F8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659923	NM_004650.3(PNPLA4):c.44G>A (p.Gly15Asp)	LOC125446266, PNPLA4 (G15D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2659922	NM_004650.3(PNPLA4):c.231T>G (p.Ser77=)	LOC126863198, PNPLA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659921	NM_004650.3(PNPLA4):c.241G>A (p.Val81Ile)	PNPLA4, LOC126863198 (V81I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659920	NM_004650.3(PNPLA4):c.243A>G (p.Val81=)	LOC126863198, PNPLA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609256	NM_004650.3(PNPLA4):c.118G>T (p.Ala40Ser)	LOC125446266, PNPLA4 (A40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394807	NM_004650.3(PNPLA4):c.170A>C (p.Glu57Ala)	LOC125446266, PNPLA4 (E57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386579	NM_004650.3(PNPLA4):c.251G>A (p.Gly84Asp)	LOC126863198, PNPLA4 (G84D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383212	NM_004650.3(PNPLA4):c.329G>A (p.Arg110Gln)	LOC126863198, PNPLA4 (R23Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350094	NM_004650.3(PNPLA4):c.77G>A (p.Cys26Tyr)	LOC125446266, PNPLA4 (C26Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333121	NM_004650.3(PNPLA4):c.358A>G (p.Thr120Ala)	LOC126863198, PNPLA4 (T33A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332076	NM_004650.3(PNPLA4):c.269G>A (p.Arg90Gln)	LOC126863198, PNPLA4 (R3Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720968	NM_004650.3(PNPLA4):c.337G>A (p.Val113Ile)	LOC126863198, PNPLA4 (V113I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 547147	GRCh37/hg19 Xp22.31(chrX:7820636-7960118)x2	PNPLA4	Copy number gain	not provided	GLikely benign
Select item 208900	NM_004650.3(PNPLA4):c.224G>A (p.Arg75Lys)	LOC126863198, PNPLA4 (R75K)	Single nucleotide variant (missense variant +1 more)	Abnormality of neuronal migration	GUncertain significance

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Links from Gene

Items: 20