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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057490	NM_152558.5(IQCE):c.-2C>T	IQCE, LOC129997827	Single nucleotide variant (5 prime UTR variant)	IQCE-related disorder	GLikely benign
Select item 1300115	NM_152558.5(IQCE):c.312T>C (p.Thr104=)	IQCE, LOC126859928	Single nucleotide variant (synonymous variant)	IQCE-related disorder +1 more	GBenign
Select item 2349988	NM_152558.5(IQCE):c.356G>A (p.Arg119Lys)	IQCE, LOC126859928 (R54K +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1300116	NM_152558.5(IQCE):c.395-10G>C	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 1300117	NM_152558.5(IQCE):c.405T>C (p.Pro135=)	IQCE	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 3048135	NM_152558.5(IQCE):c.624C>T (p.Ala208=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3040127	NM_152558.5(IQCE):c.690C>T (p.Asp230=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 3044277	NM_152558.5(IQCE):c.702C>G (p.Ser234Arg)	IQCE (S169R +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GLikely benign
Select item 1300119	NM_152558.5(IQCE):c.774+8G>A	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 1300120	NM_152558.5(IQCE):c.825-4C>T	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 3029029	NM_152558.5(IQCE):c.865A>T (p.Lys289Ter)	IQCE (K224* +2 more)	Single nucleotide variant (nonsense)	IQCE-related disorder	GUncertain significance
Select item 3037466	NM_152558.5(IQCE):c.1022G>A (p.Arg341Lys)	IQCE (R276K +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 786103	NM_152558.5(IQCE):c.1111T>C (p.Cys371Arg)	IQCE (C371R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3039032	NM_152558.5(IQCE):c.1148G>T (p.Arg383Leu)	IQCE (R318L +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 788417	NM_152558.5(IQCE):c.1175G>A (p.Arg392His)	IQCE (R327H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3037323	NM_152558.5(IQCE):c.1179C>G (p.Leu393=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 2657235	NM_152558.5(IQCE):c.1198C>T (p.Leu400=)	IQCE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3056377	NM_152558.5(IQCE):c.1233G>A (p.Leu411=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GBenign
Select item 638150	NM_152558.5(IQCE):c.1350_1353del	IQCE	Microsatellite (splice acceptor variant)	IQCE-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3034330	NM_152558.5(IQCE):c.1425G>A (p.Pro475=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 709084	NM_152558.5(IQCE):c.1533C>T (p.Arg511=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder +1 more	GBenign/Likely benign
Select item 3035295	NM_152558.5(IQCE):c.1635G>A (p.Ala545=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 1300122	NM_152558.5(IQCE):c.1637C>T (p.Ala546Val)	IQCE (A481V +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 3044958	NM_152558.5(IQCE):c.1641G>T (p.Val547=)	IQCE	Single nucleotide variant (synonymous variant)	IQCE-related disorder	GLikely benign
Select item 1300123	NM_152558.5(IQCE):c.1725G>T (p.Val575=)	IQCE	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 871386	NM_152558.5(IQCE):c.1756C>T (p.Pro586Ser)	IQCE (P570S +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder +1 more	GLikely benign
Select item 1300124	NM_152558.5(IQCE):c.1760G>A (p.Arg587His)	IQCE (R522H +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 1300125	NM_152558.5(IQCE):c.1786A>G (p.Thr596Ala)	IQCE (T531A +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 1300126	NM_152558.5(IQCE):c.1904G>A (p.Arg635Lys)	IQCE (R570K +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 711980	NM_152558.5(IQCE):c.1913C>G (p.Ser638Trp)	IQCE (S622W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1262902	NM_152558.5(IQCE):c.1969+89T>G	IQCE	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3059534	NM_152558.5(IQCE):c.1969+146G>A	IQCE	Single nucleotide variant (3 prime UTR variant +1 more)	IQCE-related disorder	GBenign
Select item 1300127	NM_152558.5(IQCE):c.1970-5T>C	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7 +1 more	GBenign
Select item 1300036	NM_152558.5(IQCE):c.1996T>G (p.Leu666Val)	IQCE (L601V +1 more)	Single nucleotide variant (missense variant)	IQCE-related disorder +1 more	GBenign
Select item 3037606	NM_152558.5(IQCE):c.2057C>T (p.Pro686Leu)	IQCE (P621L +2 more)	Single nucleotide variant (missense variant)	IQCE-related disorder	GBenign
Select item 1300037	NM_152558.5(IQCE):c.2069C>T (p.Thr690Met)	IQCE (T625M +1 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7 +1 more	GBenign

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Items: 36