Related gene-specific medical variations for Gene (Select 375775) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308196	NM_001098537.3(PNPLA7):c.1573G>T (p.Val525Phe)	LOC108281113, PNPLA7 (V525F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308192	NM_001098537.3(PNPLA7):c.1743G>C (p.Lys581Asn)	LOC108281113, PNPLA7 (K581N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216085	NM_001098537.3(PNPLA7):c.1756G>C (p.Glu586Gln)	LOC108281113, PNPLA7 (E561Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216084	NM_001098537.3(PNPLA7):c.1744G>A (p.Ala582Thr)	LOC108281113, PNPLA7 (A557T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216083	NM_001098537.3(PNPLA7):c.1725C>G (p.Ser575Arg)	LOC108281113, PNPLA7 (S575R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216082	NM_001098537.3(PNPLA7):c.1642C>T (p.Arg548Cys)	LOC108281113, PNPLA7 (R523C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216081	NM_001098537.3(PNPLA7):c.1527G>A (p.Thr509=)	LOC108281113, PNPLA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3216080	NM_001098537.3(PNPLA7):c.1502C>T (p.Ala501Val)	LOC108281113, PNPLA7 (A501V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620170	NM_001098537.3(PNPLA7):c.1541A>T (p.Gln514Leu)	LOC108281113, PNPLA7 (Q489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548050	NM_001098537.3(PNPLA7):c.1643G>A (p.Arg548His)	LOC108281113, PNPLA7 (R548H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403072	NM_001098537.3(PNPLA7):c.1577C>T (p.Ser526Leu)	LOC108281113, PNPLA7 (S501L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382914	NM_001098537.3(PNPLA7):c.1672G>A (p.Val558Met)	LOC108281113, PNPLA7 (V533M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294201	NM_001098537.3(PNPLA7):c.1753T>G (p.Tyr585Asp)	LOC108281113, PNPLA7 (Y585D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280753	NM_001098537.3(PNPLA7):c.1574T>A (p.Val525Asp)	LOC108281113, PNPLA7 (V525D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227744	NM_001098537.3(PNPLA7):c.1640C>T (p.Thr547Met)	LOC108281113, PNPLA7 (T522M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225598	NM_001098537.3(PNPLA7):c.1702G>A (p.Val568Ile)	LOC108281113, PNPLA7 (V543I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212245	NM_001098537.3(PNPLA7):c.1640C>G (p.Thr547Arg)	LOC108281113, PNPLA7 (T522R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance