ClinVar for MedGen (Select 1794185) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236068	NM_032217.5(ANKRD17):c.4094A>G (p.His1365Arg)	ANKRD17 (H1114R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 3235970	NM_032217.5(ANKRD17):c.1945_1950del (p.Leu649_Ile650del)	ANKRD17	Deletion (inframe_deletion)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 3068213	NM_032217.5(ANKRD17):c.344A>C (p.Asn115Thr)	ANKRD17 (N115T)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 3065862	NM_032217.5(ANKRD17):c.1927G>A (p.Val643Ile)	ANKRD17 (V530I +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 3065335	NM_032217.5(ANKRD17):c.5135G>A (p.Arg1712His)	ANKRD17 (R1461H +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2691858	NM_032217.5(ANKRD17):c.2110G>T (p.Ala704Ser)	ANKRD17 (A591S +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2691007	NM_032217.5(ANKRD17):c.4442_4448del (p.Arg1481fs)	ANKRD17 (R1230fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 2688573	NM_032217.5(ANKRD17):c.2915G>A (p.Gly972Glu)	ANKRD17 (G859E +1 more)	Single nucleotide variant (missense variant +1 more)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2688572	NM_032217.5(ANKRD17):c.1861G>A (p.Ala621Thr)	ANKRD17 (A508T +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2664778	NM_032217.5(ANKRD17):c.1887del (p.Gly630fs)	ANKRD17 (G517fs +1 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2578433	NM_032217.5(ANKRD17):c.2590_2591del (p.Lys864fs)	ANKRD17 (K751fs +1 more)	Deletion (frameshift variant +1 more)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2572563	NM_032217.5(ANKRD17):c.7448_7454del (p.Met2483fs)	ANKRD17 (M2232fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2571586	NM_032217.5(ANKRD17):c.2053G>A (p.Ala685Thr)	ANKRD17 (A572T +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2502359	NM_032217.5(ANKRD17):c.7799A>G (p.Asn2600Ser)	ANKRD17 (N2349S +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 2499673	NM_032217.5(ANKRD17):c.203A>C (p.Gln68Pro)	ANKRD17 (Q68P)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2442129	NM_032217.5(ANKRD17):c.6719C>G (p.Pro2240Arg)	ANKRD17 (P1989R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2439101	NM_032217.5(ANKRD17):c.6160G>A (p.Gly2054Arg)	ANKRD17 (G1803R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1805225	NM_032217.5(ANKRD17):c.7729A>C (p.Thr2577Pro)	ANKRD17 (T2326P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome +1 more	GUncertain significance
Select item 1710277	NM_032217.5(ANKRD17):c.2272C>T (p.Pro758Ser)	ANKRD17 (P645S +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1710268	NM_032217.5(ANKRD17):c.6961+2T>C	ANKRD17	Single nucleotide variant (splice donor variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1705401	NM_032217.5(ANKRD17):c.4574A>G (p.Asp1525Gly)	ANKRD17 (D1274G +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1705293	NM_032217.5(ANKRD17):c.3788G>C (p.Gly1263Ala)	ANKRD17 (G1012A +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1697300	NM_032217.5(ANKRD17):c.4074G>A (p.Trp1358Ter)	ANKRD17 (W1107* +3 more)	Single nucleotide variant (nonsense)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1691443	NM_032217.5(ANKRD17):c.4066C>T (p.Pro1356Ser)	ANKRD17 (P1105S +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1477858	NM_032217.5(ANKRD17):c.2003T>G (p.Leu668Arg)	ANKRD17 (L668R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342987	NM_032217.5(ANKRD17):c.7300C>G (p.Arg2434Gly)	ANKRD17 (R2183G +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342986	NM_032217.5(ANKRD17):c.3557C>G (p.Pro1186Arg)	ANKRD17 (P1073R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342985	NM_032217.5(ANKRD17):c.2147T>G (p.Leu716Arg)	ANKRD17 (L603R +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342984	NM_032217.5(ANKRD17):c.833G>T (p.Gly278Val)	ANKRD17 (G165V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1342983	NM_032217.5(ANKRD17):c.5638T>C (p.Ser1880Pro)	ANKRD17 (S1629P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342982	NM_032217.5(ANKRD17):c.1556T>C (p.Leu519Pro)	ANKRD17 (L406P +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342981	NM_032217.5(ANKRD17):c.3359T>G (p.Leu1120Arg)	ANKRD17 (L1007R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1333233	NM_032217.5(ANKRD17):c.4828G>T (p.Glu1610Ter)	ANKRD17 (E1359* +3 more)	Single nucleotide variant (nonsense)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1328170	NM_032217.5(ANKRD17):c.7454A>C (p.His2485Pro)	ANKRD17 (H2234P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1327412	NM_032217.5(ANKRD17):c.1408C>T (p.Pro470Ser)	ANKRD17 (P357S +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	Gnot provided
Select item 1325865	NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs)	ANKRD17 (Q1536fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 1213836	NM_032217.5(ANKRD17):c.4341_4344del (p.Gln1448fs)	ANKRD17 (Q1197fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 1213835	NM_032217.5(ANKRD17):c.4091G>C (p.Gly1364Ala)	ANKRD17 (G1113A +2 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1213834	NM_032217.5(ANKRD17):c.1958-2A>C	ANKRD17	Single nucleotide variant (splice acceptor variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 976319	NM_032217.5(ANKRD17):c.3751_3754del (p.Asn1251fs)	ANKRD17 (N1000fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 816890	NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)	ANKRD17 (A1669fs +3 more)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 690371	NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter)	ANKRD17 (E762* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic

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Links from MedGen

Items: 42