"PreventionGenetics, part of Exact Sciences"[submitter] AND "INTU"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1613877	NM_015693.4(INTU):c.104T>C (p.Val35Ala)	INTU (V35A)	Single nucleotide variant (missense variant)	INTU-related disorder +1 more	GBenign
Select item 2636803	NM_015693.4(INTU):c.310del (p.Arg104fs)	INTU (R104fs)	Deletion (frameshift variant)	INTU-related disorder	GLikely pathogenic
Select item 1249414	NM_015693.4(INTU):c.471A>G (p.Arg157=)	INTU	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome 17 +3 more	GBenign
Select item 2413604	NM_015693.4(INTU):c.651A>T (p.Gly217=)	INTU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1179813	NM_015693.4(INTU):c.813G>A (p.Thr271=)	INTU	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome 17 +3 more	GBenign
Select item 2070874	NM_015693.4(INTU):c.1165G>A (p.Gly389Ser)	INTU (G389S)	Single nucleotide variant (missense variant)	INTU-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 504485	NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)	INTU, LOC126807151 (A452T)	Single nucleotide variant (missense variant)	INTU-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3053672	NM_015693.4(INTU):c.1450-9_1450-8dup	INTU	Duplication (intron variant)	INTU-related disorder	GLikely benign
Select item 3055831	NM_015693.4(INTU):c.1755T>A (p.Pro585=)	INTU	Single nucleotide variant (synonymous variant)	INTU-related disorder	GLikely benign
Select item 2049546	NM_015693.4(INTU):c.1880A>G (p.Gln627Arg)	INTU (Q627R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1654060	NM_015693.4(INTU):c.2114G>A (p.Arg705His)	INTU (R705H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2059796	NM_015693.4(INTU):c.2131T>C (p.Cys711Arg)	INTU (C711R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2162791	NM_015693.4(INTU):c.2202G>A (p.Pro734=)	INTU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2060030	NM_015693.4(INTU):c.2213G>A (p.Arg738Gln)	INTU (R738Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2056134	NM_015693.4(INTU):c.2548T>C (p.Leu850=)	INTU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2045118	NM_015693.4(INTU):c.2721A>G (p.Arg907=)	INTU	Single nucleotide variant (synonymous variant)	INTU-related disorder +1 more	GLikely benign
Select item 1423527	NM_015693.4(INTU):c.2787C>T (p.Ala929=)	INTU	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign