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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2493487	NM_198559.2(CATIP):c.59C>T (p.Pro20Leu)	CATIP, CATIP-AS2 (P31L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263493	NM_198559.2(CATIP):c.64T>A (p.Cys22Ser)	CATIP, CATIP-AS2 (C22S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263524	NM_198559.2(CATIP):c.100G>A (p.Asp34Asn)	CATIP, CATIP-AS2 (D45N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469760	NM_198559.2(CATIP):c.170C>T (p.Ser57Leu)	CATIP, CATIP-AS2 (S68L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3137742	NM_198559.2(CATIP):c.276C>G (p.Ser92Arg)	CATIP, CATIP-AS2 (S92R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137743	NM_198559.2(CATIP):c.278G>A (p.Arg93Gln)	CATIP, CATIP-AS2 (R104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531361	NM_198559.2(CATIP):c.281G>C (p.Gly94Ala)	CATIP, CATIP-AS2 (G105A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600604	NM_198559.2(CATIP):c.310T>G (p.Ser104Ala)	CATIP, CATIP-AS2 (S104A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351811	NM_198559.2(CATIP):c.317T>G (p.Leu106Arg)	CATIP, CATIP-AS2 (L106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272562	NM_198559.2(CATIP):c.391A>G (p.Met131Val)	CATIP (M131V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245777	NM_198559.2(CATIP):c.424G>C (p.Asp142His)	CATIP (D142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597968	NM_198559.2(CATIP):c.664C>T (p.His222Tyr)	CATIP (H222Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263522	NM_198559.2(CATIP):c.736T>A (p.Tyr246Asn)	CATIP (Y257N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137745	NM_198559.2(CATIP):c.788C>A (p.Pro263Gln)	CATIP, CATIP-AS1 (P263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306413	NM_198559.2(CATIP):c.812T>C (p.Met271Thr)	CATIP, CATIP-AS1 (M271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137746	NM_198559.2(CATIP):c.814C>A (p.Pro272Thr)	CATIP, CATIP-AS1 (P272T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263523	NM_198559.2(CATIP):c.826G>C (p.Glu276Gln)	CATIP, CATIP-AS1 (E276Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595216	NM_198559.2(CATIP):c.839T>C (p.Ile280Thr)	CATIP, CATIP-AS1 (I280T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288859	NM_198559.2(CATIP):c.886G>A (p.Asp296Asn)	CATIP, CATIP-AS1 (D296N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291559	NM_198559.2(CATIP):c.1042G>A (p.Ala348Thr)	CATIP, CATIP-AS1 (A359T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2397967	NM_198559.2(CATIP):c.1046A>T (p.Glu349Val)	CATIP-AS1, CATIP (E360V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2455164	NM_198559.2(CATIP):c.1087G>A (p.Ala363Thr)	CATIP, CATIP-AS1 +1 more (A374T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2520733	NM_198559.2(CATIP):c.1094G>A (p.Gly365Asp)	CATIP, CATIP-AS1 +1 more (G376D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3263521	NM_198559.2(CATIP):c.1132C>G (p.Pro378Ala)	CATIP, LOC129935598 (P389A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24