"PNPLA5-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046235	NM_138814.4(PNPLA5):c.1083-5T>A	PNPLA5	Single nucleotide variant (intron variant)	PNPLA5-related disorder	GLikely benign
Select item 3035582	NM_138814.4(PNPLA5):c.949+6G>T	PNPLA5	Single nucleotide variant (intron variant)	PNPLA5-related disorder	GBenign
Select item 3060401	NM_138814.4(PNPLA5):c.856T>C (p.Trp286Arg)	PNPLA5 (W146R +2 more)	Single nucleotide variant (missense variant)	PNPLA5-related disorder	GBenign
Select item 3039719	NM_138814.4(PNPLA5):c.852A>G (p.Gln284=)	PNPLA5	Single nucleotide variant (synonymous variant)	PNPLA5-related disorder	GBenign
Select item 3059962	NM_138814.4(PNPLA5):c.825C>T (p.Asp275=)	PNPLA5	Single nucleotide variant (synonymous variant)	PNPLA5-related disorder	GBenign
Select item 3038114	NM_138814.4(PNPLA5):c.653C>T (p.Thr218Ile)	PNPLA5 (T104I +2 more)	Single nucleotide variant (missense variant)	PNPLA5-related disorder	GBenign
Select item 3037987	NM_138814.4(PNPLA5):c.639C>T (p.Ser213=)	PNPLA5	Single nucleotide variant (synonymous variant)	PNPLA5-related disorder	GBenign
Select item 3037896	NM_138814.4(PNPLA5):c.599C>T (p.Thr200Ile)	PNPLA5 (T200I +2 more)	Single nucleotide variant (missense variant)	PNPLA5-related disorder	GBenign
Select item 3056388	NM_138814.4(PNPLA5):c.493-10C>T	PNPLA5	Single nucleotide variant (intron variant)	PNPLA5-related disorder	GBenign
Select item 3039362	NM_138814.4(PNPLA5):c.478G>A (p.Glu160Lys)	PNPLA5 (E160K +1 more)	Single nucleotide variant (missense variant +1 more)	PNPLA5-related disorder	GBenign
Select item 3059437	NM_138814.4(PNPLA5):c.418C>T (p.Leu140Phe)	PNPLA5 (L140F)	Single nucleotide variant (5 prime UTR variant +2 more)	PNPLA5-related disorder	GBenign
Select item 3059900	NM_138814.4(PNPLA5):c.306T>C (p.Asp102=)	PNPLA5	Single nucleotide variant (5 prime UTR variant +2 more)	PNPLA5-related disorder	GBenign
Select item 3060543	NM_138814.4(PNPLA5):c.132C>T (p.Arg44=)	PNPLA5	Single nucleotide variant (synonymous variant +1 more)	PNPLA5-related disorder	GBenign
Select item 3033575	NM_138814.4(PNPLA5):c.75G>A (p.Val25=)	PNPLA5	Single nucleotide variant (synonymous variant +1 more)	PNPLA5-related disorder	GBenign
Select item 3050256	NM_138814.4(PNPLA5):c.72C>T (p.His24=)	PNPLA5	Single nucleotide variant (synonymous variant +1 more)	PNPLA5-related disorder	GLikely benign