"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CA2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 798273	NM_000067.3(CA2):c.139C>T (p.Leu47=)	CA2	Single nucleotide variant (synonymous variant +1 more)	Osteopetrosis with renal tubular acidosis +2 more	GLikely benign
Select item 911480	NM_000067.3(CA2):c.192T>C (p.His64=)	CA2 (M3T)	Single nucleotide variant (synonymous variant +1 more)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 1476471	NM_000067.3(CA2):c.281A>G (p.His94Arg)	CA2 (H94R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1482044	NM_000067.3(CA2):c.339A>G (p.Lys113=)	CA2	Single nucleotide variant (synonymous variant +1 more)	Osteopetrosis with renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
Select item 1666094	NM_000067.3(CA2):c.444+18T>G	CA2	Single nucleotide variant (intron variant)	Osteopetrosis with renal tubular acidosis +1 more	GLikely benign
Select item 1551713	NM_000067.3(CA2):c.453C>T (p.Ser151=)	CA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1656000	NM_000067.3(CA2):c.534C>T (p.Phe178=)	CA2	Single nucleotide variant (synonymous variant)	Osteopetrosis with renal tubular acidosis +1 more	GLikely benign
Select item 1393124	NM_000067.3(CA2):c.541C>T (p.Arg181Cys)	CA2 (R181C +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis +1 more	GUncertain significance
Select item 729165	NM_000067.3(CA2):c.549C>G (p.Leu183=)	CA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 591996	NM_000067.3(CA2):c.575C>T (p.Thr192Ile)	CA2 (T192I +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis +1 more	GUncertain significance
Select item 1665901	NM_000067.3(CA2):c.607C>A (p.Leu203Met)	CA2 (L102M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 716534	NM_000067.3(CA2):c.618G>A (p.Val206=)	CA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 363836	NM_000067.3(CA2):c.648C>T (p.Ser216=)	CA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 850547	NM_000067.3(CA2):c.649G>A (p.Val217Ile)	CA2 (V116I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 198387	NM_000067.3(CA2):c.677G>A (p.Arg226His)	CA2 (R226H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 632527	NM_000067.3(CA2):c.681del (p.Lys227fs)	CA2 (K227fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1517076	NM_000067.3(CA2):c.709G>A (p.Glu237Lys)	CA2 (E237K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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