"PreventionGenetics, part of Exact Sciences"[submitter] AND "HIVEP1"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628779	NM_002114.4(HIVEP1):c.778A>C (p.Thr260Pro)	HIVEP1 (T260P)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 3052158	NM_002114.4(HIVEP1):c.915A>G (p.Ser305=)	HIVEP1	Single nucleotide variant (synonymous variant)	HIVEP1-related disorder	GLikely benign
Select item 3053900	NM_002114.4(HIVEP1):c.1871A>G (p.Gln624Arg)	HIVEP1 (Q624R)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign
Select item 3047876	NM_002114.4(HIVEP1):c.2196A>T (p.Pro732=)	HIVEP1	Single nucleotide variant (synonymous variant)	HIVEP1-related disorder	GLikely benign
Select item 2636990	NM_002114.4(HIVEP1):c.2631T>A (p.Asp877Glu)	HIVEP1 (D877E)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 732884	NM_002114.4(HIVEP1):c.2672G>A (p.Gly891Glu)	HIVEP1 (G891E)	Single nucleotide variant (missense variant)	HIVEP1-related disorder +1 more	GLikely benign
Select item 3036519	NM_002114.4(HIVEP1):c.3387C>G (p.His1129Gln)	HIVEP1 (H1129Q)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 743637	NM_002114.4(HIVEP1):c.4212G>T (p.Leu1404Phe)	HIVEP1 (L1404F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2390209	NM_002114.4(HIVEP1):c.5009G>T (p.Cys1670Phe)	HIVEP1 (C1670F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2635152	NM_002114.4(HIVEP1):c.5896A>C (p.Thr1966Pro)	HIVEP1 (T1966P)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GUncertain significance
Select item 3044037	NM_002114.4(HIVEP1):c.7202T>C (p.Val2401Ala)	HIVEP1 (V2401A)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign
Select item 3043934	NM_002114.4(HIVEP1):c.7687G>A (p.Val2563Ile)	HIVEP1 (V2563I)	Single nucleotide variant (missense variant)	HIVEP1-related disorder	GLikely benign