ClinVar for Gene (Select 2814) - ClinVar

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

Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685949	GRCh37/hg19 3q29(chr3:193843129-194259647)x3	ATP13A3, CPN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2621541	NM_004488.2(GP5):c.1064C>G (p.Pro355Arg)	GP5 (P355R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618768	NM_004488.2(GP5):c.638T>C (p.Leu213Pro)	GP5 (L213P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609862	NM_004488.2(GP5):c.1628T>C (p.Met543Thr)	GP5 (M543T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605374	NM_004488.2(GP5):c.943C>G (p.Arg315Gly)	GP5 (R315G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598758	NM_004488.2(GP5):c.1564T>A (p.Trp522Arg)	GP5 (W522R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593420	NM_004488.2(GP5):c.181G>C (p.Gly61Arg)	GP5 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2559672	NM_004488.2(GP5):c.1066G>T (p.Asp356Tyr)	GP5 (D356Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556164	NM_004488.2(GP5):c.47C>T (p.Ala16Val)	GP5 (A16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539113	NM_004488.2(GP5):c.1066G>C (p.Asp356His)	GP5 (D356H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522431	NM_004488.2(GP5):c.395A>G (p.Asn132Ser)	GP5 (N132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483030	NM_004488.2(GP5):c.757C>T (p.His253Tyr)	GP5 (H253Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479203	NM_004488.2(GP5):c.977G>C (p.Arg326Pro)	GP5 (R326P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475862	NM_004488.2(GP5):c.988C>T (p.Leu330Phe)	GP5 (L330F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363270	NM_004488.2(GP5):c.950G>T (p.Arg317Leu)	GP5 (R317L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357252	NM_004488.2(GP5):c.719G>A (p.Arg240Gln)	GP5 (R240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303565	NM_004488.2(GP5):c.718C>T (p.Arg240Trp)	GP5 (R240W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298960	NM_004488.2(GP5):c.322A>G (p.Asn108Asp)	GP5 (N108D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282776	NM_004488.2(GP5):c.613C>T (p.Arg205Cys)	GP5 (R205C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268414	NM_004488.2(GP5):c.655G>A (p.Ala219Thr)	GP5 (A219T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260026	NM_004488.2(GP5):c.1408G>T (p.Ala470Ser)	GP5 (A470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205451	NM_004488.2(GP5):c.1081G>A (p.Gly361Ser)	GP5, LOC129938198 (G361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809441	GRCh37/hg19 3q29(chr3:193396762-195009038)x3	ACAP2, ATP13A3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527069	GRCh37/hg19 3q29(chr3:193836939-194169926)	ATP13A3, CPN2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 770150	NM_004488.2(GP5):c.973C>T (p.Pro325Ser)	GP5 (P325S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394725	GRCh37/hg19 3q29(chr3:193952869-194669386)x3	ATP13A3, CPN2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 252983	GRCh37/hg19 3q29(chr3:193944478-194483962)x1	ATP13A3, CPN2 +5 more	Copy number loss	See cases	GUncertain significance
Select item 221436	GRCh37/hg19 3q29(chr3:193333511-194338436)x3	ATP13A3, CPN2 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	ACAP2, APOD +313 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	SENP5, XXYLT1 +273 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	ACAP2, APOD +375 more	Copy number gain	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 64