C0220687[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208708	NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	ANKRD11 (Q2609*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2439093	NM_013275.6(ANKRD11):c.7807-2A>G	ANKRD11	Single nucleotide variant (splice acceptor variant)	KBG syndrome	GUncertain significance
Select item 985348	NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	ANKRD11 (R2512W)	Single nucleotide variant (missense variant)	Sudden unexplained death in childhood +3 more	GPathogenic/Likely pathogenic
Select item 1323903	NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter)	ANKRD11 (Y2469*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 280900	NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter)	ANKRD11 (Q2412*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2433892	NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)	ANKRD11 (E2409*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 2439087	NM_013275.6(ANKRD11):c.7160G>A (p.Arg2387His)	ANKRD11 (R2387H)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 862455	NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)	ANKRD11 (A2371S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 450818	NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)	ANKRD11 (R2328fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2439089	NM_013275.6(ANKRD11):c.6970C>T (p.Pro2324Ser)	ANKRD11 (P2324S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439098	NM_013275.6(ANKRD11):c.6790C>T (p.Pro2264Ser)	ANKRD11 (P2264S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2688571	NM_013275.6(ANKRD11):c.6439G>A (p.Asp2147Asn)	ANKRD11 (D2147N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2672666	NM_013275.6(ANKRD11):c.6329C>T (p.Ser2110Phe)	ANKRD11 (S2110F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1337348	NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu)	ANKRD11 (P2073L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2439090	NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)	ANKRD11 (D2039N)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 445802	NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	ANKRD11 (K2038E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2193681	NM_013275.6(ANKRD11):c.5935C>G (p.Leu1979Val)	ANKRD11 (L1979V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1746239	NM_013275.6(ANKRD11):c.5231A>T (p.His1744Leu)	ANKRD11 (H1744L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1254536	NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)	ANKRD11 (Q1743*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2439092	NM_013275.6(ANKRD11):c.5198C>G (p.Ala1733Gly)	ANKRD11 (A1733G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439094	NM_013275.6(ANKRD11):c.4637T>G (p.Val1546Gly)	ANKRD11 (V1546G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1327687	NM_013275.6(ANKRD11):c.4534C>T (p.Arg1512Cys)	ANKRD11 (R1512C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2164027	NM_013275.6(ANKRD11):c.4453C>G (p.Leu1485Val)	ANKRD11 (L1485V)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GUncertain significance
Select item 2433945	NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)	ANKRD11 (E1436fs)	Microsatellite (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 2201411	NM_013275.6(ANKRD11):c.3868C>T (p.His1290Tyr)	ANKRD11 (H1290Y)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439088	NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)	ANKRD11 (D1261E)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439096	NM_013275.6(ANKRD11):c.3415_3416delinsTT (p.Glu1139Leu)	ANKRD11 (E1139L)	Indel (missense variant)	KBG syndrome	GUncertain significance
Select item 2439099	NM_013275.6(ANKRD11):c.3257A>G (p.Lys1086Arg)	ANKRD11 (K1086R)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439091	NM_013275.6(ANKRD11):c.2759G>C (p.Arg920Thr)	ANKRD11 (R920T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439100	NM_013275.6(ANKRD11):c.2539G>A (p.Asp847Asn)	ANKRD11 (D847N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1323154	NM_013275.6(ANKRD11):c.2288_2289del (p.Glu763fs)	ANKRD11 (E763fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 804529	NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)	ANKRD11 (R738H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 585402	NM_013275.6(ANKRD11):c.1994A>G (p.Lys665Arg)	ANKRD11 (K665R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay +11 more	GPathogenic/Likely pathogenic
Select item 1323904	NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter)	ANKRD11 (K621*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 1526233	NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs)	ANKRD11 (T571fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 2439097	NM_013275.6(ANKRD11):c.1038G>A (p.Glu346=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GUncertain significance

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Items: 37