ClinVar for MedGen (Select 1627079) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377151	NM_152558.5(IQCE):c.1493G>A (p.Trp498Ter)	IQCE (W433* +2 more)	Single nucleotide variant (nonsense)	Polydactyly, postaxial, type a7	GPathogenic
Select item 3377144	NM_152558.5(IQCE):c.1540del (p.Cys514fs)	IQCE (C449fs +2 more)	Deletion (frameshift variant)	Polydactyly, postaxial, type a7	GPathogenic
Select item 3065859	NM_152558.5(IQCE):c.1616dup (p.Ala540fs)	IQCE (A475fs +2 more)	Duplication (frameshift variant)	Polydactyly, postaxial, type a7	GLikely pathogenic
Select item 2506557	GRCh37/hg19 7p22.3(chr7:2606751-2641098)	IQCE	Copy number loss	Polydactyly, postaxial, type a7	GLikely pathogenic
Select item 1300127	NM_152558.5(IQCE):c.1970-5T>C	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	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	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	GBenign
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	GBenign
Select item 1300123	NM_152558.5(IQCE):c.1725G>T (p.Val575=)	IQCE	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7	GBenign
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	GBenign
Select item 1300121	NM_152558.5(IQCE):c.1609-5dup	IQCE	Duplication (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300120	NM_152558.5(IQCE):c.825-4C>T	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300119	NM_152558.5(IQCE):c.774+8G>A	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300118	NM_152558.5(IQCE):c.465+11G>A	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300117	NM_152558.5(IQCE):c.405T>C (p.Pro135=)	IQCE	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300116	NM_152558.5(IQCE):c.395-10G>C	IQCE	Single nucleotide variant (intron variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300115	NM_152558.5(IQCE):c.312T>C (p.Thr104=)	IQCE, LOC126859928	Single nucleotide variant (synonymous variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1300038	NM_152558.5(IQCE):c.*23C>T	IQCE	Single nucleotide variant (3 prime UTR variant)	Polydactyly, postaxial, type a7	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	GBenign
Select item 1300036	NM_152558.5(IQCE):c.1996T>G (p.Leu666Val)	IQCE (L601V +1 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7	GBenign
Select item 1030264	NM_152558.5(IQCE):c.3G>A (p.Met1Ile)	IQCE, LOC129997827 (M1I)	Single nucleotide variant (missense variant +2 more)	Polydactyly, postaxial, type a7	GLikely pathogenic
Select item 977081	NM_152558.5(IQCE):c.1843C>T (p.His615Tyr)	IQCE (H550Y +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7	GUncertain significance
Select item 684526	NM_152558.5(IQCE):c.212G>A (p.Arg71Gln)	IQCE (R6Q +2 more)	Single nucleotide variant (missense variant)	Polydactyly, postaxial, type a7	GBenign
Select item 638150	NM_152558.5(IQCE):c.1350_1353del	IQCE	Microsatellite (splice acceptor variant)	Polydactyly, postaxial, type A1	GPathogenic
Select item 638149	NM_152558.5(IQCE):c.895_904del (p.Val301fs)	IQCE (V285fs +2 more)	Deletion (frameshift variant)	Brachydactyly +4 more	GPathogenic
Select item 437834	NM_152558.5(IQCE):c.395-1G>A	IQCE	Single nucleotide variant (splice acceptor variant)	Polydactyly, postaxial, type a7	GPathogenic

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Items: 26