"GP6-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2077536	NM_016363.5(GP6):c.*782G>A	GP6	Single nucleotide variant (synonymous variant +1 more)	GP6-related disorder +1 more	GBenign/Likely benign
Select item 777546	NM_016363.5(GP6):c.728_729insTCCC	GP6 (G585fs)	Insertion (frameshift variant +1 more)	GP6-related disorder +1 more	GBenign/Likely benign
Select item 3039893	NM_016363.5(GP6):c.*692C>T	GP6	Single nucleotide variant (synonymous variant +1 more)	GP6-related disorder	GBenign
Select item 1343517	NM_016363.5(GP6):c.*599G>A	GP6	Single nucleotide variant (synonymous variant +1 more)	GP6-related disorder +2 more	GLikely benign
Select item 3060047	NM_016363.5(GP6):c.*371T>G	GP6	Single nucleotide variant (synonymous variant +1 more)	GP6-related disorder	GLikely benign
Select item 789672	NM_016363.5(GP6):c.*263G>A	GP6 (W429*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2049192	NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])	GP6	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257426	NM_016363.5(GP6):c.936C>G (p.Leu312=)	GP6 (P314A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 2054011	NM_016363.5(GP6):c.390A>T (p.Val130=)	GP6	Single nucleotide variant (synonymous variant)	GP6-related disorder +1 more	GBenign
Select item 777296	NM_016363.5(GP6):c.307C>G (p.Leu103Val)	GP6 (L103V)	Single nucleotide variant (missense variant)	GP6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3011785	NM_016363.5(GP6):c.72G>A (p.Pro24=)	GP6	Single nucleotide variant (synonymous variant)	GP6-related disorder +1 more	GLikely benign
Select item 2200595	NM_016363.5(GP6):c.60G>A (p.Ala20=)	GP6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign