"GeneDx"[submitter] AND "CA12"[gene] - ClinVar

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Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291975	NM_001218.5(CA12):c.*234C>T	CA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 218369	NM_001218.5(CA12):c.908-1G>A	CA12	Single nucleotide variant (splice acceptor variant)	Isolated hyperchlorhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 1278122	NM_001218.5(CA12):c.908-283dup	CA12	Duplication (intron variant)	not provided	GBenign
Select item 1263601	NM_001218.5(CA12):c.875-224dup	CA12	Duplication (intron variant)	not provided	GBenign
Select item 1245197	NM_001218.5(CA12):c.875-209del	CA12	Deletion (intron variant)	not provided	GBenign
Select item 1282856	NM_001218.5(CA12):c.874+127G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263542	NM_001218.5(CA12):c.748-323dup	CA12	Duplication (intron variant)	not provided	GBenign
Select item 1291991	NM_001218.5(CA12):c.748-325_748-324insA	CA12	Insertion (intron variant)	not provided	GBenign
Select item 1276183	NM_001218.5(CA12):c.748-329_748-326del	CA12	Deletion (intron variant)	not provided	GBenign
Select item 1270897	NM_001218.5(CA12):c.526-256A>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259055	NM_001218.5(CA12):c.430-109C>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278378	NM_001218.5(CA12):c.430-132G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252940	NM_001218.5(CA12):c.430-191A>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286474	NM_001218.5(CA12):c.429+186C>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252802	NM_001218.5(CA12):c.429+148G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231766	NM_001218.5(CA12):c.286+251C>T	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233257	NM_001218.5(CA12):c.286+92G>A	CA12, LOC132090881	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291965	NM_001218.5(CA12):c.107-108T>C	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229963	NM_001218.5(CA12):c.107-113G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224646	NM_001218.5(CA12):c.86-284C>T	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226289	NM_001218.5(CA12):c.85+255T>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279881	NM_001218.5(CA12):c.85+94C>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236005	NC_000015.10:g.63381972T>C	CA12	Single nucleotide variant	not provided	GBenign
Select item 1244121	NC_000015.10:g.63382096T>C	CA12	Single nucleotide variant	not provided	GBenign
Select item 1226248	NC_000015.10:g.63382290TTTG[3]	CA12	Microsatellite	not provided	GBenign

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Items: 25