ClinVar for MedGen (Select 91042) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Osteopetrosis with renal tubular acidosis +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 1551713	NM_000067.3(CA2):c.453C>T (p.Ser151=)	CA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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)	Osteopetrosis with renal tubular acidosis +1 more	GUncertain significance
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 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 1030577	NM_000067.3(CA2):c.311G>T (p.Gly104Val)	CA2 (G104V)	Single nucleotide variant (missense variant +1 more)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 973759	NM_000067.3(CA2):c.275A>C (p.Gln92Pro)	CA2 (Q92P)	Single nucleotide variant (missense variant +1 more)	Osteopetrosis with renal tubular acidosis	GLikely pathogenic
Select item 911482	NM_000067.3(CA2):c.472A>G (p.Lys158Glu)	CA2 (K57E +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis +1 more	GUncertain significance
Select item 911481	NM_000067.3(CA2):c.462G>A (p.Pro154=)	CA2	Single nucleotide variant (synonymous variant)	Osteopetrosis with renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
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 911479	NM_000067.3(CA2):c.87C>T (p.Ser29=)	CA2	Single nucleotide variant (synonymous variant +1 more)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 911285	NM_000067.3(CA2):c.74G>A (p.Gly25Glu)	CA2 (G25E)	Single nucleotide variant (missense variant +1 more)	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 909361	NM_000067.3(CA2):c.*624T>C	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 909360	NM_000067.3(CA2):c.*535T>C	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 908511	NM_000067.3(CA2):c.*173T>C	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 850547	NM_000067.3(CA2):c.649G>A (p.Val217Ile)	CA2 (V116I +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis +1 more	GUncertain significance
Select item 804410	NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)	CA2 (Y193* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +1 more	GLikely pathogenic
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 +1 more	GLikely benign
Select item 729165	NM_000067.3(CA2):c.549C>G (p.Leu183=)	CA2	Single nucleotide variant (synonymous variant)	Osteopetrosis with renal tubular acidosis +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 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 632526	NM_000067.3(CA2):c.143_146del (p.Ser48fs)	CA2 (S48fs)	Microsatellite (frameshift variant +1 more)	Osteopetrosis with renal tubular acidosis +1 more	GConflicting classifications of pathogenicity
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 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 369615	NM_000067.2(CA2):c.-181A>T	CA2, CA3-AS1	Single nucleotide variant	Osteopetrosis with renal tubular acidosis +1 more	GBenign
Select item 363842	NM_000067.3(CA2):c.*562T>C	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363841	NM_000067.3(CA2):c.*465A>C	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363840	NM_000067.3(CA2):c.*374A>G	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363839	NM_000067.3(CA2):c.*303C>T	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GBenign
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
Select item 363837	NM_000067.3(CA2):c.*17G>A	CA2	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
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 363835	NM_000067.3(CA2):c.539C>T (p.Pro180Leu)	CA2 (P180L +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363834	NM_000067.3(CA2):c.508-7G>A	CA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363833	NM_000067.3(CA2):c.40G>A (p.Glu14Lys)	CA2 (E14K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 363831	NM_000067.2(CA2):c.-84_-82dup	CA2, CA3-AS1	Duplication	Osteopetrosis with renal tubular acidosis	GUncertain significance
Select item 363830	NM_000067.2(CA2):c.-130C>A	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 363828	NM_000067.2(CA2):c.-176C>T	CA2, CA3-AS1	Single nucleotide variant	Osteopetrosis with renal tubular acidosis	GUncertain significance
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 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 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 920	NM_000067.3(CA2):c.621del (p.Trp208fs)	CA2 (W107fs +1 more)	Deletion (frameshift variant)	Osteopetrosis with renal tubular acidosis	GPathogenic
Select item 919	NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)	CA2 (Y40*)	Single nucleotide variant (nonsense +1 more)	Osteopetrosis with renal tubular acidosis	GPathogenic
Select item 917	NM_000067.3(CA2):c.508-1G>C	CA2	Single nucleotide variant (splice acceptor variant)	Osteopetrosis with renal tubular acidosis	GPathogenic
Select item 916	NM_000067.3(CA2):c.319C>T (p.His107Tyr)	CA2 (H107Y)	Single nucleotide variant (missense variant +1 more)	Osteopetrosis with renal tubular acidosis	GPathogenic
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

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Items: 55