CA3-AS1[gene] - ClinVar

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Items: 33

	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 2527831	NM_005181.4(CA3):c.244G>A (p.Gly82Ser)	CA3, CA3-AS1 (G82S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2330721	NM_005181.4(CA3):c.344C>A (p.Ala115Glu)	CA3, CA3-AS1 (A115E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2593657	NM_005181.4(CA3):c.563G>A (p.Arg188Gln)	CA3, CA3-AS1 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263654	NM_005181.4(CA3):c.748A>G (p.Ile250Val)	CA3, CA3-AS1 (I250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225462	NC_000008.11:g.85463771GAGCCCCG[5]	CA2, CA3-AS1 +1 more	Microsatellite	not provided	GBenign
Select item 1190097	NC_000008.11:g.85463771GAGCCCCG[6]	CA2, CA3-AS1 +1 more	Microsatellite	not provided	GLikely benign
Select item 369615	NM_000067.2(CA2):c.-181A>T	CA2, CA3-AS1	Single nucleotide variant	Osteopetrosis with renal tubular acidosis +1 more	GBenign
Select item 363828	NM_000067.2(CA2):c.-176C>T	CA2, CA3-AS1	Single nucleotide variant	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363829	NM_000067.2(CA2):c.-138G>A	CA2, CA3-AS1	Single nucleotide variant	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363830	NM_000067.2(CA2):c.-130C>A	CA3-AS1, CA2	Single nucleotide variant	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363831	NM_000067.2(CA2):c.-84_-82dup	CA2, CA3-AS1	Duplication	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363832	NM_000067.3(CA2):c.-53G>T	CA2, CA3-AS1	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 911284	NM_000067.3(CA2):c.-43G>C	CA2, CA3-AS1	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 1700071	NM_000067.3(CA2):c.2T>G (p.Met1Arg)	CA2, CA3-AS1 (M1R)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 2110074	NM_000067.3(CA2):c.16G>C (p.Gly6Arg)	CA2, CA3-AS1 (G6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 522744	NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)	CA2, CA3-AS1 (Y7*)	Single nucleotide variant (nonsense +1 more)	Osteopetrosis with renal tubular acidosis	GPathogenic
Select item 2772709	NM_000067.3(CA2):c.34+18C>A	CA2, CA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965205	NM_000067.3(CA2):c.34+19C>T	CA2, CA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 33