"GeneDx"[submitter] AND "CA2"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	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 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 1254062	NM_000067.3(CA2):c.35-164A>C	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 288909	NM_000067.3(CA2):c.232+1G>A	CA2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1328640	NM_000067.3(CA2):c.352-66T>C	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225747	NM_000067.3(CA2):c.444+52C>T	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312285	NM_000067.3(CA2):c.503C>G (p.Thr168Arg)	CA2 (T168R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247644	NM_000067.3(CA2):c.507+139A>C	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271203	NM_000067.3(CA2):c.508-278G>A	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326028	NM_000067.3(CA2):c.508-204del	CA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1285909	NM_000067.3(CA2):c.508-154C>T	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501334	NM_000067.3(CA2):c.508-30G>C	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254787	NM_000067.3(CA2):c.562T>C (p.Leu188=)	CA2	Single nucleotide variant (synonymous variant)	Osteopetrosis with renal tubular acidosis +2 more	GBenign
Select item 1810040	NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)	CA2 (L110fs +1 more)	Indel (frameshift variant)	Osteopetrosis with renal tubular acidosis +1 more	GPathogenic/Likely pathogenic
Select item 1192641	NM_000067.3(CA2):c.663+82A>C	CA2	Single nucleotide variant (intron variant)	Osteopetrosis with renal tubular acidosis +1 more	GBenign
Select item 1294537	NM_000067.3(CA2):c.663+113T>C	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270262	NM_000067.3(CA2):c.663+282dup	CA2	Duplication (intron variant)	not provided	GBenign
Select item 1188482	NM_000067.3(CA2):c.663+281_663+282dup	CA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1227991	NM_000067.3(CA2):c.663+282del	CA2	Deletion (intron variant)	not provided	GBenign
Select item 1259910	NM_000067.3(CA2):c.664-331A>T	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258835	NM_000067.3(CA2):c.664-244_664-243insG	CA2	Insertion (intron variant)	not provided	GBenign
Select item 1257649	NM_000067.3(CA2):c.664-243_664-242insGTG	CA2	Insertion (intron variant)	not provided	GBenign
Select item 2136219	NM_000067.3(CA2):c.664-226dup	CA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1288541	NM_000067.3(CA2):c.664-214dup	CA2	Duplication (intron variant)	not provided	GBenign
Select item 1244615	NM_000067.3(CA2):c.664-225G>T	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234732	NM_000067.3(CA2):c.664-224_664-223insGTT	CA2	Insertion (intron variant)	not provided	GBenign
Select item 1233641	NM_000067.3(CA2):c.664-197A>G	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279613	NM_000067.3(CA2):c.664-43C>T	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198387	NM_000067.3(CA2):c.677G>A (p.Arg226His)	CA2 (R226H +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis +2 more	GUncertain significance
Select item 632527	NM_000067.3(CA2):c.681del (p.Lys227fs)	CA2 (K227fs +1 more)	Deletion (frameshift variant)	Osteopetrosis with renal tubular acidosis +1 more	GPathogenic/Likely pathogenic
Select item 1309474	NM_000067.3(CA2):c.733C>T (p.Arg245Cys)	CA2 (R144C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913	NM_000067.3(CA2):c.754A>G (p.Asn252Asp)	CA2 (N252D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 363838	NM_000067.3(CA2):c.*212A>G	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis +1 more	GBenign

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Items: 37