ClinVar for Gene (Select 760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136127	NM_000067.3(CA2):c.755A>G (p.Asn252Ser)	CA2 (N151S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	PREX2, PRKDC +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 3036420	NM_000067.3(CA2):c.153T>A (p.Tyr51Ter)	CA2 (Y51*)	Single nucleotide variant (nonsense +1 more)	CA2-related disorder	GLikely pathogenic
Select item 3013808	NM_000067.3(CA2):c.352-9C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007721	NM_000067.3(CA2):c.444+10T>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006140	NM_000067.3(CA2):c.195T>G (p.Ala65=)	CA2 (L4R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994173	NM_000067.3(CA2):c.663+16A>G	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993936	NM_000067.3(CA2):c.445-15T>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978268	NM_000067.3(CA2):c.351+19_351+21del	CA2	Deletion (intron variant)	not provided	GLikely benign
Select item 2954850	NM_000067.3(CA2):c.717G>A (p.Leu239=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900404	NM_000067.3(CA2):c.651C>G (p.Val217=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899560	NM_000067.3(CA2):c.35-4C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896946	NM_000067.3(CA2):c.157C>G (p.Gln53Glu)	CA2 (Q53E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2833660	NM_000067.3(CA2):c.171G>A (p.Leu57=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802476	NM_000067.3(CA2):c.352-8G>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2750525	NM_000067.3(CA2):c.188_193del (p.Gly63_His64del)	CA2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2691368	NM_000067.3(CA2):c.610G>T (p.Glu204Ter)	CA2 (E103* +1 more)	Single nucleotide variant (nonsense)	Osteopetrosis with renal tubular acidosis	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 2658674	NM_000067.3(CA2):c.708C>T (p.Pro236=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636443	NM_000067.3(CA2):c.232+2T>G	CA2	Single nucleotide variant (splice donor variant)	CA2-related disorder	GLikely pathogenic
Select item 2623052	NM_000067.3(CA2):c.453C>A (p.Ser151Arg)	CA2 (S151R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514047	NM_000067.3(CA2):c.542G>A (p.Arg181His)	CA2 (R181H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501334	NM_000067.3(CA2):c.508-30G>C	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2473872	NM_000067.3(CA2):c.58T>C (p.Phe20Leu)	CA2 (F20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426512	NC_000008.10:g.(?_86053597)_(87755855_?)dup	CA3, CA2 +12 more	Duplication	not provided	GUncertain significance
Select item 2418243	NM_000067.3(CA2):c.663+9T>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414769	NM_000067.3(CA2):c.484G>A (p.Val162Met)	CA2 (V162M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2359995	NM_000067.3(CA2):c.409C>A (p.Pro137Thr)	CA2 (P137T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322490	NM_000067.3(CA2):c.710A>C (p.Glu237Ala)	CA2 (E136A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287479	NM_000067.3(CA2):c.514A>G (p.Ser172Gly)	CA2 (S172G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235964	NM_000067.3(CA2):c.364C>T (p.His122Tyr)	CA2 (H122Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184375	NM_000067.3(CA2):c.779A>G (p.Lys260Arg)	CA2 (K260R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177526	NM_000067.3(CA2):c.537T>G (p.Asp179Glu)	CA2 (D179E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136219	NM_000067.3(CA2):c.664-226dup	CA2	Duplication (intron variant)	not provided	GLikely benign
Select item 2123649	NM_000067.3(CA2):c.430G>A (p.Gly144Ser)	CA2 (G43S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116306	NM_000067.3(CA2):c.765C>A (p.Ile255=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2100525	NM_000067.3(CA2):c.664-11G>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086498	NM_000067.3(CA2):c.441G>T (p.Leu147Phe)	CA2 (L46F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085687	NM_000067.3(CA2):c.654C>G (p.Ser218Arg)	CA2 (S117R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069442	NM_000067.3(CA2):c.52A>C (p.Lys18Gln)	CA2 (K18Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2052670	NM_000067.3(CA2):c.734G>A (p.Arg245His)	CA2 (R144H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001896	NM_000067.3(CA2):c.115A>C (p.Lys39Gln)	CA2 (K39Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1985815	NM_000067.3(CA2):c.434T>C (p.Ile145Thr)	CA2 (I145T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982009	NM_000067.3(CA2):c.655A>G (p.Ser219Gly)	CA2 (S118G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965205	NM_000067.3(CA2):c.34+19C>T	CA2, CA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957226	NM_000067.3(CA2):c.240G>A (p.Lys80=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1952442	NM_000067.3(CA2):c.508-18G>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947342	NM_000067.3(CA2):c.233-13G>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946173	NM_000067.3(CA2):c.165T>C (p.Thr55=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944141	NM_000067.3(CA2):c.619A>G (p.Thr207Ala)	CA2 (T106A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938998	NM_000067.3(CA2):c.352-5C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938704	NM_000067.3(CA2):c.508-3T>G	CA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1931082	NM_000067.3(CA2):c.749T>G (p.Leu250Arg)	CA2 (L250R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925947	NM_000067.3(CA2):c.124C>A (p.Pro42Thr)	CA2 (P42T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1916629	NM_000067.3(CA2):c.552T>A (p.Leu184=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912917	NM_000067.3(CA2):c.125C>T (p.Pro42Leu)	CA2 (P42L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910853	NM_000067.3(CA2):c.351+21del	CA2	Deletion (intron variant)	not provided	GBenign
Select item 1909512	NM_000067.3(CA2):c.508-20G>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1808610	GRCh37/hg19 8q21.2(chr8:86326757-86844401)x3	CA2, CA3	Copy number gain	not provided	GUncertain significance
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 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 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 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 1658991	NM_000067.3(CA2):c.351+9T>A	CA2	Single nucleotide variant (intron variant)	not provided	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 1630835	NM_000067.3(CA2):c.508-19C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617307	NM_000067.3(CA2):c.508-12G>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616168	NM_000067.3(CA2):c.35-18_35-17del	CA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1605262	NM_000067.3(CA2):c.664-11G>C	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579641	NM_000067.3(CA2):c.129C>T (p.Ser43=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1561381	NM_000067.3(CA2):c.667T>C (p.Leu223=)	CA2	Single nucleotide variant (synonymous variant)	not provided	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 1538901	NM_000067.3(CA2):c.445-19C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533733	NM_000067.3(CA2):c.759G>A (p.Arg253=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1522845	NM_000067.3(CA2):c.701G>A (p.Gly234Asp)	CA2 (G234D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1515382	NM_000067.3(CA2):c.445G>A (p.Val149Ile)	CA2 (V149I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512128	NM_000067.3(CA2):c.444+3T>G	CA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1501532	NM_000067.3(CA2):c.566A>G (p.Asp189Gly)	CA2 (D88G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495624	NM_000067.3(CA2):c.657C>T (p.Ser219=)	CA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482044	NM_000067.3(CA2):c.339A>G (p.Lys113=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1466194	NC_000008.10:g.(?_86376311)_(86393018_?)dup	CA2	Duplication	not provided	GUncertain significance
Select item 1454475	NC_000008.10:g.(?_86376311)_(86377718_?)del	CA2	Deletion	not provided	GPathogenic
Select item 1448764	NM_000067.3(CA2):c.163A>T (p.Thr55Ser)	CA2 (T55S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1399500	NM_000067.3(CA2):c.433A>G (p.Ile145Val)	CA2 (I145V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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