1373[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
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 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	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 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 147729	GRCh38/hg38 8q21.2(chr8:84246857-85606287)x1	CA1, CA13 +25 more	Copy number loss	See cases	GUncertain significance
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 363828	NM_000067.2(CA2):c.-176C>T	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 363830	NM_000067.2(CA2):c.-130C>A	CA2, CA3-AS1	Single nucleotide 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 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 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 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 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 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 2772709	NM_000067.3(CA2):c.34+18C>A	CA2, CA3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1254062	NM_000067.3(CA2):c.35-164A>C	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 195010	NM_000067.3(CA2):c.35-7C>A	CA2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1357408	NM_000067.3(CA2):c.35-5C>G	CA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2899560	NM_000067.3(CA2):c.35-4C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2069442	NM_000067.3(CA2):c.52A>C (p.Lys18Gln)	CA2 (K18Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 914	NM_000067.3(CA2):c.52A>G (p.Lys18Glu)	CA2 (K18E)	Single nucleotide variant (missense variant +1 more)	CARBONIC ANHYDRASE II VARIANT	GPathogenic
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 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 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 1116585	NM_000067.3(CA2):c.96C>T (p.Asp32=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 1579641	NM_000067.3(CA2):c.129C>T (p.Ser43=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2896946	NM_000067.3(CA2):c.157C>G (p.Gln53Glu)	CA2 (Q53E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1946173	NM_000067.3(CA2):c.165T>C (p.Thr55=)	CA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 742307	NM_000067.3(CA2):c.183C>T (p.Asn61=)	CA2	Single nucleotide variant (synonymous variant +1 more)	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 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 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 288909	NM_000067.3(CA2):c.232+1G>A	CA2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 1947342	NM_000067.3(CA2):c.233-13G>A	CA2	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 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 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 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 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 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 1658991	NM_000067.3(CA2):c.351+9T>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164197	NM_000067.3(CA2):c.351+21dup	CA2	Duplication (intron variant)	not provided	GBenign
Select item 2978268	NM_000067.3(CA2):c.351+19_351+21del	CA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1910853	NM_000067.3(CA2):c.351+21del	CA2	Deletion (intron variant)	not provided	GBenign
Select item 1328640	NM_000067.3(CA2):c.352-66T>C	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013808	NM_000067.3(CA2):c.352-9C>T	CA2	Single nucleotide variant (intron variant)	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 1938998	NM_000067.3(CA2):c.352-5C>T	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1354540	NM_000067.3(CA2):c.424G>A (p.Val142Ile)	CA2 (V41I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038992	NM_000067.3(CA2):c.427C>G (p.Leu143Val)	CA2 (L143V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1399500	NM_000067.3(CA2):c.433A>G (p.Ile145Val)	CA2 (I145V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 1512128	NM_000067.3(CA2):c.444+3T>G	CA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007721	NM_000067.3(CA2):c.444+10T>A	CA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1225747	NM_000067.3(CA2):c.444+52C>T	CA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1538901	NM_000067.3(CA2):c.445-19C>T	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 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 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 1551713	NM_000067.3(CA2):c.453C>T (p.Ser151=)	CA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 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 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

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