"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691513	NM_001366722.1(GRIP1):c.2464+3A>G	GRIP1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227419	NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)	GRIP1 (M742R +3 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 1696374	NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn)	GRIP1 (K543N +5 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +2 more	GUncertain significance
Select item 265191	NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)	GRIP1 (I534L +3 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 1698650	NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala)	GRIP1 (V129A +2 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 402210	NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	GRIP1 (V54I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1878400	NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)	GRIP1 (V4fs)	Deletion (frameshift variant +1 more)	Fraser syndrome 1	GLikely pathogenic
Select item 2429278	NM_001366722.1(GRIP1):c.1A>G (p.Met1Val)	GRIP1 (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance