ClinVar for Gene (Select 759) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136109	NM_001128831.4(CA1):c.89C>G (p.Ser30Cys)	CA1 (S30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136108	NM_001128831.4(CA1):c.770T>C (p.Val257Ala)	CA1 (V191A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136106	NM_001128831.4(CA1):c.65C>T (p.Pro22Leu)	CA1 (P22L)	Single nucleotide variant (missense variant +1 more)	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	ADAM18, ADAM2 +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 2615838	NM_001128831.4(CA1):c.307G>A (p.Glu103Lys)	CA1 (E37K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605156	NM_001128831.4(CA1):c.147T>A (p.Ser49Arg)	CA1 (S49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603303	NM_001128831.4(CA1):c.719T>C (p.Val240Ala)	CA1 (V127A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589121	NM_001128831.4(CA1):c.645G>C (p.Glu215Asp)	CA1 (E215D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	CA3, CA2 +12 more	Duplication	not provided	GUncertain significance
Select item 2401452	NM_001128831.4(CA1):c.352G>A (p.Glu118Lys)	CA1 (E52K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399323	NM_001128831.4(CA1):c.676C>A (p.Gln226Lys)	CA1 (Q160K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384158	NM_001128831.4(CA1):c.694T>A (p.Ser232Thr)	CA1 (S166T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380784	NM_001128831.4(CA1):c.550A>G (p.Thr184Ala)	CA1 (T118A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365877	NM_001128831.4(CA1):c.64C>T (p.Pro22Ser)	CA1 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272471	NM_001128831.4(CA1):c.314G>A (p.Gly105Asp)	CA1 (G105D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 792108	NM_001128831.4(CA1):c.360C>T (p.His120=)	CA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786412	NM_001128831.4(CA1):c.500C>T (p.Ala167Val)	CA1 (A54V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784132	NM_001128831.4(CA1):c.587C>T (p.Pro196Leu)	CA1 (P130L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776361	NM_001128831.4(CA1):c.428C>T (p.Ala143Val)	CA1 (A30V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 694733	NM_001128831.4(CA1):c.368_369del (p.His123fs)	CA1 (H10fs +2 more)	Deletion (frameshift variant)	Renal tubular acidosis +2 more	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
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	PPP1R16A, PPP1R42 +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)	NSD3, NSMAF +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	AARD, ABRA +665 more	Copy number gain	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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 147729	GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1	CA1, CA13 +25 more	Copy number loss	See cases	GUncertain significance
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 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 17606	NM_001128831.4(CA1):c.740G>A (p.Arg247His)	CA1 (R247H +2 more)	Single nucleotide variant (missense variant)	Carbonic anhydrase I deficiency	GPathogenic
Select item 17605	NM_001128831.4(CA1):c.760G>C (p.Gly254Arg)	CA1 (G254R +2 more)	Single nucleotide variant (missense variant)	Carbonic anhydrase I, Guam	GPathogenic

ClinVar

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Links from Gene

Items: 59