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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045738	NM_033198.4(PIGS):c.1667G>A (p.Ter556=)	PIGS	Single nucleotide variant (synonymous variant)	PIGS-related disorder	GLikely benign
Select item 2647579	NM_033198.4(PIGS):c.1634G>A (p.Arg545His)	PIGS (R545H)	Single nucleotide variant (missense variant)	PIGS-related disorder +1 more	GBenign/Likely benign
Select item 2570979	NM_033198.4(PIGS):c.1515G>A (p.Pro505=)	PIGS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043826	NM_033198.4(PIGS):c.1481C>G (p.Ala494Gly)	PIGS (A494G)	Single nucleotide variant (missense variant)	PIGS-related disorder	GLikely benign
Select item 2647581	NM_033198.4(PIGS):c.1468G>A (p.Ala490Thr)	PIGS (A490T)	Single nucleotide variant (missense variant)	PIGS-related disorder +1 more	GLikely benign
Select item 2570980	NM_033198.4(PIGS):c.1414G>A (p.Val472Ile)	PIGS (V472I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777153	NM_033198.4(PIGS):c.1030G>T (p.Ala344Ser)	PIGS (A344S)	Single nucleotide variant (missense variant)	PIGS-related disorder +1 more	GBenign
Select item 2647585	NM_033198.4(PIGS):c.792C>T (p.Ala264=)	PIGS	Single nucleotide variant (synonymous variant)	PIGS-related disorder +1 more	GLikely benign
Select item 781360	NM_033198.4(PIGS):c.758G>A (p.Arg253His)	PIGS (R253H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3049421	NM_033198.4(PIGS):c.554G>A (p.Arg185His)	PIGS (R185H)	Single nucleotide variant (missense variant)	PIGS-related disorder	GLikely benign
Select item 1335264	NM_033198.4(PIGS):c.553C>T (p.Arg185Cys)	PIGS (R185C)	Single nucleotide variant (missense variant)	PIGS-related disorder +1 more	GLikely benign
Select item 1335265	NM_033198.4(PIGS):c.492C>T (p.Pro164=)	PIGS	Single nucleotide variant (synonymous variant)	PIGS-related disorder +1 more	GLikely benign
Select item 3049081	NM_033198.4(PIGS):c.435C>T (p.Tyr145=)	PIGS	Single nucleotide variant (synonymous variant)	PIGS-related disorder	GBenign
Select item 3052709	NM_033198.4(PIGS):c.286+7T>C	PIGS	Single nucleotide variant (intron variant)	PIGS-related disorder	GBenign
Select item 3037314	NM_033198.4(PIGS):c.215A>C (p.Glu72Ala)	PIGS (E72A)	Single nucleotide variant (missense variant)	PIGS-related disorder	GBenign