25062[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 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 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 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
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
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 1172755	NM_198559.2(CATIP):c.103T>A (p.Phe35Ile)	CATIP-AS2, CATIP (F35I +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 54	GPathogenic
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 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 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, CATIP-AS1 (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 provided +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
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2571131	GRCh37/hg19 2q35(chr2:219204506-219222815)x1	CATIP, PNKD	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	RNF25, SLC11A1 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 625776	GRCh37/hg19 2q35(chr2:218271898-219825640)	AAMP, ARPC2 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 562550	GRCh37/hg19 2q35(chr2:219139778-219368933)x3	CTDSP1, CATIP +6 more	Copy number gain	not provided	GUncertain significance
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221429	GRCh37/hg19 2q35(chr2:219221864-219423299)x3	CATIP, CTDSP1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56