"Ambry Genetics"[submitter] AND "CLIP1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244334	NM_001247997.2(CLIP1):c.4263C>G (p.Ile1421Met)	CLIP1 (I1375M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304324	NM_001247997.2(CLIP1):c.4181C>G (p.Pro1394Arg)	CLIP1 (P1394R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434775	NM_001247997.2(CLIP1):c.4066G>A (p.Gly1356Arg)	CLIP1 (G1345R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2605203	NM_001247997.2(CLIP1):c.4007A>G (p.Lys1336Arg)	CLIP1 (K1290R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400912	NM_001247997.2(CLIP1):c.3908G>C (p.Ser1303Thr)	CLIP1 (S1257T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696622	NM_001247997.2(CLIP1):c.3800A>G (p.Lys1267Arg)	CLIP1 (K1221R +3 more)	Single nucleotide variant (missense variant)	CLIP1-related intellectual disability +1 more	GUncertain significance
Select item 2550092	NM_001247997.2(CLIP1):c.3149C>T (p.Thr1050Met)	CLIP1 (T1050M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2538519	NM_001247997.2(CLIP1):c.3113C>G (p.Thr1038Ser)	CLIP1 (T1027S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281104	NM_001247997.2(CLIP1):c.3056A>G (p.His1019Arg)	CLIP1 (H1008R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492356	NM_001247997.2(CLIP1):c.2974G>C (p.Glu992Gln)	CLIP1 (E981Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266914	NM_001247997.2(CLIP1):c.2845G>A (p.Asp949Asn)	CLIP1 (D903N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213908	NM_001247997.2(CLIP1):c.2840T>G (p.Met947Arg)	CLIP1 (M901R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337550	NM_001247997.2(CLIP1):c.2611C>G (p.Gln871Glu)	CLIP1 (Q860E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558879	NM_001247997.2(CLIP1):c.2441A>G (p.Glu814Gly)	CLIP1 (E814G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354568	NM_001247997.2(CLIP1):c.2229G>C (p.Lys743Asn)	CLIP1 (K697N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516136	NM_001247997.2(CLIP1):c.2176G>A (p.Val726Ile)	CLIP1 (V726I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522559	NM_001247997.2(CLIP1):c.2154C>A (p.Asp718Glu)	CLIP1 (D707E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282891	NM_001247997.2(CLIP1):c.1958C>T (p.Thr653Met)	CLIP1 (T607M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214501	NM_001247997.2(CLIP1):c.1955A>G (p.Glu652Gly)	CLIP1 (E606G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527499	NM_001247997.2(CLIP1):c.1891A>G (p.Ile631Val)	CLIP1 (I585V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332532	NM_001247997.2(CLIP1):c.1858A>G (p.Ile620Val)	CLIP1 (I609V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465114	NM_001247997.2(CLIP1):c.1784C>T (p.Thr595Met)	CLIP1 (T584M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403668	NM_001247997.2(CLIP1):c.1756A>G (p.Lys586Glu)	CLIP1 (K540E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236098	NM_001247997.2(CLIP1):c.1727A>G (p.His576Arg)	CLIP1 (H530R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339714	NM_001247997.2(CLIP1):c.1600G>A (p.Glu534Lys)	CLIP1 (E534K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276877	NM_001247997.2(CLIP1):c.1589G>A (p.Arg530Gln)	CLIP1 (R530Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529126	NM_001247997.2(CLIP1):c.1458T>G (p.Phe486Leu)	CLIP1 (F475L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557239	NM_001247997.2(CLIP1):c.1282C>G (p.Leu428Val)	CLIP1 (L428V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241878	NM_001247997.2(CLIP1):c.1189G>A (p.Asp397Asn)	CLIP1 (D397N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473756	NM_001247997.2(CLIP1):c.1153G>A (p.Val385Met)	CLIP1 (V385M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550091	NM_001247997.2(CLIP1):c.1148G>A (p.Ser383Asn)	CLIP1 (S383N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 839306	NM_001247997.2(CLIP1):c.1024C>T (p.Arg342Cys)	CLIP1 (R342C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2411307	NM_001247997.2(CLIP1):c.896T>C (p.Val299Ala)	CLIP1 (V299A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514656	NM_001247997.2(CLIP1):c.776G>C (p.Gly259Ala)	CLIP1 (G259A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530705	NM_001247997.2(CLIP1):c.715G>A (p.Gly239Arg)	CLIP1 (G239R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256485	NM_001247997.2(CLIP1):c.685C>T (p.Arg229Trp)	CLIP1 (R229W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622123	NM_001247997.2(CLIP1):c.676G>T (p.Gly226Cys)	CLIP1 (G226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617596	NM_001247997.2(CLIP1):c.530A>G (p.Lys177Arg)	CLIP1 (K177R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287226	NM_001247997.2(CLIP1):c.349A>G (p.Ile117Val)	CLIP1 (I117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610063	NM_001247997.2(CLIP1):c.298G>A (p.Asp100Asn)	CLIP1 (D100N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285286	NM_001247997.2(CLIP1):c.154G>A (p.Glu52Lys)	CLIP1 (E52K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386443	NM_001247997.2(CLIP1):c.130A>G (p.Ser44Gly)	CLIP1 (S44G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 42