CA13[gene] - ClinVar

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

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 147729	GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1	CA1, CA13 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2264376	NM_198584.3(CA13):c.91C>G (p.Pro31Ala)	CA13 (P31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294391	NM_198584.3(CA13):c.115G>A (p.Val39Met)	CA13 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262578	NM_198584.3(CA13):c.190G>A (p.Gly64Ser)	CA13 (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356425	NM_198584.3(CA13):c.203A>G (p.Asn68Ser)	CA13 (N68S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390206	NM_198584.3(CA13):c.247G>A (p.Gly83Ser)	CA13 (G83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468403	NM_198584.3(CA13):c.344A>G (p.Tyr115Cys)	CA13 (Y115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244194	NM_198584.3(CA13):c.446T>C (p.Leu149Ser)	CA13 (L149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713332	NM_198584.3(CA13):c.456T>C (p.Gly152=)	CA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3262579	NM_198584.3(CA13):c.549G>T (p.Leu183Phe)	CA13 (L183F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386441	NM_198584.3(CA13):c.697A>T (p.Thr233Ser)	CA13 (T233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136120	NM_198584.3(CA13):c.701C>G (p.Ala234Gly)	CA13 (A234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257085	NM_198584.3(CA13):c.718G>A (p.Ala240Thr)	CA13 (A240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462228	NM_198584.3(CA13):c.731G>T (p.Ser244Ile)	CA13 (S244I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622711	NM_198584.3(CA13):c.740G>A (p.Arg247His)	CA13 (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262577	NM_198584.3(CA13):c.746C>T (p.Pro249Leu)	CA13 (P249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684547	GRCh37/hg19 8q21.2(chr8:86060380-86553118)x3	CA1, CA13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	ATP6V0D2, CA1 +12 more	Duplication	not provided	GUncertain significance
Select item 1809213	GRCh37/hg19 8q21.13-21.2(chr8:83705217-86441492)x1	CA1, CA13 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 815141	GRCh37/hg19 8q21.2(chr8:85635587-86553130)x3	CA3, CA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686594	GRCh37/hg19 8q21.2(chr8:86114785-86214050)x1	CA13, E2F5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685054	GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	ATP6V0D2, CA1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 395584	GRCh37/hg19 8q21.2(chr8:86163125-86262003)x1	CA1, CA13	Copy number loss	See cases	GLikely benign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	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

Search results

Items: 55