"PreventionGenetics, part of Exact Sciences"[submitter] AND "IQSEC2"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1336653	NM_001111125.3(IQSEC2):c.4288C>A (p.Pro1430Thr)	IQSEC2 (P1430T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 1 +2 more	GUncertain significance
Select item 750305	NM_001111125.3(IQSEC2):c.3714G>A (p.Thr1238=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, X-linked 1 +1 more	GLikely benign
Select item 387552	NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	IQSEC2-related disorder +3 more	GLikely benign
Select item 3044483	NM_001111125.3(IQSEC2):c.3452-10G>A	IQSEC2	Single nucleotide variant (intron variant)	IQSEC2-related disorder	GLikely benign
Select item 3046959	NM_001111125.3(IQSEC2):c.3222C>T (p.Ser1074=)	IQSEC2	Single nucleotide variant (synonymous variant)	IQSEC2-related disorder	GLikely benign
Select item 380407	NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)	IQSEC2 (R939H +1 more)	Single nucleotide variant (missense variant)	IQSEC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1500688	NM_001111125.3(IQSEC2):c.2384G>A (p.Arg795Gln)	IQSEC2 (R590Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 281170	NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)	IQSEC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 511515	NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=)	IQSEC2	Single nucleotide variant (synonymous variant)	IQSEC2-related disorder +2 more	GBenign/Likely benign
Select item 3040318	NM_001111125.3(IQSEC2):c.1630G>A (p.Glu544Lys)	IQSEC2 (E339K +1 more)	Single nucleotide variant (missense variant)	IQSEC2-related disorder	GUncertain significance
Select item 392522	NM_001111125.3(IQSEC2):c.1402-10C>A	IQSEC2	Single nucleotide variant (intron variant)	IQSEC2-related disorder +2 more	GBenign/Likely benign
Select item 3029289	NM_001111125.3(IQSEC2):c.1124C>T (p.Ser375Leu)	IQSEC2 (S170L +1 more)	Single nucleotide variant (missense variant)	IQSEC2-related disorder	GUncertain significance
Select item 855595	NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser)	IQSEC2 (A304S +1 more)	Single nucleotide variant (missense variant)	IQSEC2-related disorder +1 more	GUncertain significance
Select item 2635440	NM_001111125.3(IQSEC2):c.823C>A (p.Pro275Thr)	IQSEC2 (P275T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GConflicting classifications of pathogenicity
Select item 3037055	NM_001243197.2(IQSEC2):c.12C>T (p.Pro4=)	IQSEC2	Single nucleotide variant (synonymous variant +1 more)	IQSEC2-related disorder	GLikely benign
Select item 779721	NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=)	IQSEC2	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 1 +2 more	GBenign
Select item 211209	NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=)	IQSEC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 379876	NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala)	IQSEC2 (G193A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 3029747	NM_001111125.3(IQSEC2):c.437G>A (p.Gly146Asp)	IQSEC2 (G146D)	Single nucleotide variant (missense variant)	IQSEC2-related disorder	GUncertain significance
Select item 471271	NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys)	IQSEC2 (G115C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 588654	NM_001111125.3(IQSEC2):c.326A>G (p.Gln109Arg)	IQSEC2 (Q109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 383983	NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)	IQSEC2 (E63G)	Single nucleotide variant (missense variant)	IQSEC2-related disorder +3 more	GBenign/Likely benign
Select item 2630266	NM_001111125.3(IQSEC2):c.166C>G (p.Gln56Glu)	IQSEC2 (Q56E)	Single nucleotide variant (missense variant)	IQSEC2-related disorder	GUncertain significance
Select item 1465223	NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln)	IQSEC2 (R42Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +2 more	GUncertain significance
Select item 3032952	NM_001111125.3(IQSEC2):c.122G>A (p.Arg41Gln)	IQSEC2 (R41Q)	Single nucleotide variant (missense variant)	IQSEC2-related disorder	GUncertain significance
Select item 382662	NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=)	IQSEC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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Items: 26