ClinVar for Gene (Select 101928513) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2651876	NM_198559.2(CATIP):c.947G>C (p.Ser316Thr)	CATIP, CATIP-AS1 (S316T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 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 provided +1 more	GUncertain significance
Select item 2397967	NM_198559.2(CATIP):c.1046A>T (p.Glu349Val)	CATIP, CATIP-AS1 (E360V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic