Related gene-specific medical variations for Gene (Select 55129) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247034	NC_000003.11:g.(?_43621903)_(43626102_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247033	NC_000003.11:g.(?_43621903)_(43624057_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247032	NC_000003.11:g.(?_43616281)_(43621984_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247031	NC_000003.11:g.(?_43641856)_(43647344_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247030	NC_000003.11:g.(?_43591192)_(43647344_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247029	NC_000003.11:g.(?_43616281)_(43616376_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247028	NC_000003.11:g.(?_43647186)_(43647344_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3247026	NC_000003.11:g.(?_43474083)_(43474239_?)del	ANO10	Deletion	not provided	GPathogenic
Select item 3015389	NM_016006.6(ABHD5):c.47+10_47+32dup	ABHD5, ANO10	Duplication (intron variant)	not provided	GLikely benign
Select item 3014387	NM_016006.6(ABHD5):c.47+10G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983573	NM_016006.6(ABHD5):c.36C>T (p.Asp12=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2860399	NM_016006.6(ABHD5):c.6G>A (p.Ala2=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2820907	NM_016006.6(ABHD5):c.47+13G>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684294	NM_018075.5(ANO10):c.966G>A (p.Val322=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2684281	NM_018075.5(ANO10):c.532G>A (p.Ala178Thr)	ANO10 (A112T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684277	NM_018075.5(ANO10):c.412A>G (p.Lys138Glu)	ANO10 (K138E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684269	NM_018075.5(ANO10):c.1866G>A (p.Met622Ile)	ANO10 (M432I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684267	NM_018075.5(ANO10):c.1853G>A (p.Arg618Gln)	ANO10 (R428Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684264	NM_018075.5(ANO10):c.1915-5883G>C	ANO10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684260	NM_018075.5(ANO10):c.1753C>A (p.Pro585Thr)	ANO10 (P395T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684245	NM_018075.5(ANO10):c.*10G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2573043	NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)	ANO10 (W34*)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 10	GLikely pathogenic
Select item 2439107	NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)	ANO10 (K44E)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 2190391	NM_016006.6(ABHD5):c.47+6C>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2189874	NM_016006.6(ABHD5):c.5CGG[3] (p.Ala3_Glu4insAla)	ABHD5, ANO10	Microsatellite (initiator_codon_variant +2 more)	not provided	GUncertain significance
Select item 2176389	NM_016006.6(ABHD5):c.21G>A (p.Glu7=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2125795	NM_016006.6(ABHD5):c.47+20G>C	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119890	NM_016006.6(ABHD5):c.25G>T (p.Asp9Tyr)	ABHD5, ANO10 (D9Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2001085	NM_016006.6(ABHD5):c.40G>C (p.Gly14Arg)	ABHD5, ANO10 (G14R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1994350	NM_016006.6(ABHD5):c.44A>G (p.Glu15Gly)	ABHD5, ANO10 (E15G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1990337	NM_016006.6(ABHD5):c.47+13G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988625	NM_016006.6(ABHD5):c.47+6C>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1934953	NM_016006.6(ABHD5):c.26A>T (p.Asp9Val)	ABHD5, ANO10 (D9V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1925173	NM_016006.6(ABHD5):c.47+19G>T	ANO10, ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807062	NM_018075.5(ANO10):c.1429A>G (p.Thr477Ala)	ANO10 (T287A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807061	NM_018075.5(ANO10):c.602G>A (p.Arg201His)	ANO10 (R135H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807060	NM_018075.5(ANO10):c.341A>G (p.Asn114Ser)	ANO10 (N114S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807059	NM_018075.5(ANO10):c.712G>C (p.Glu238Gln)	ANO10 (E127Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807054	NM_018075.5(ANO10):c.1179_1180del (p.Glu393fs)	ANO10 (E203fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1561378	NM_016006.6(ABHD5):c.47+19G>C	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558149	NM_016006.6(ABHD5):c.33C>T (p.Ala11=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1524465	NM_016006.6(ABHD5):c.28T>A (p.Ser10Thr)	ABHD5, ANO10 (S10T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1425120	NM_016006.6(ABHD5):c.14A>C (p.Glu5Ala)	ABHD5, ANO10 (E5A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399365	NM_016006.6(ABHD5):c.13G>A (p.Glu5Lys)	ABHD5, ANO10 (E5K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1256273	NM_018075.5(ANO10):c.5A>T (p.Lys2Ile)	ANO10 (K2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251488	NM_016006.6(ABHD5):c.47+59G>A	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 994501	NM_018075.5(ANO10):c.312C>G (p.Thr104=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 994500	NM_018075.5(ANO10):c.1260C>T (p.Ala420=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 994499	NM_018075.5(ANO10):c.1050C>A (p.Ser350Arg)	ANO10 (S239R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 901882	NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)	ANO10, ABHD5 (E15K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 901881	NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)	ABHD5, ANO10 (E4A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901332	NM_016006.6(ABHD5):c.-48C>T	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900167	NM_018075.5(ANO10):c.-104C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 814438	GRCh37/hg19 3p22.1(chr3:43456812-43558128)x1	ANO10	Copy number loss	not provided	GUncertain significance
Select item 809474	NM_016006.6(ABHD5):c.34G>A (p.Asp12Asn)	ANO10, ABHD5 (D12N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 523800	NM_016006.6(ABHD5):c.16G>T (p.Glu6Ter)	ABHD5, ANO10 (E6*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 369420	NM_016006.5(ABHD5):c.-114A>G	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 345216	NM_016006.6(ABHD5):c.39C>T (p.Thr13=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 345215	NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)	ABHD5, ANO10 (D9G)	Single nucleotide variant (missense variant +2 more)	Triglyceride storage disease with ichthyosis +2 more	GConflicting classifications of pathogenicity
Select item 345214	NM_016006.6(ABHD5):c.12G>A (p.Glu4=)	ANO10, ABHD5	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 345213	NM_016006.6(ABHD5):c.-19C>T	ANO10, ABHD5	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 345212	NM_016006.6(ABHD5):c.-24C>T	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345211	NM_016006.6(ABHD5):c.-30A>G	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345210	NM_016006.5(ABHD5):c.-64G>A	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345209	NM_016006.5(ABHD5):c.-65G>C	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345208	NM_016006.5(ABHD5):c.-68C>G	ANO10, ABHD5	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345207	NM_016006.5(ABHD5):c.-91C>G	ANO10, ABHD5	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345206	NM_016006.5(ABHD5):c.-98C>A	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345205	NM_018075.4(ANO10):c.-140G>A	ANO10, LOC129936579	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia	GUncertain significance
Select item 345204	NM_018075.5(ANO10):c.-102C>A	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345203	NM_018075.5(ANO10):c.-95del	ANO10, LOC129936579	Deletion (5 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia	GUncertain significance
Select item 345202	NM_018075.5(ANO10):c.-90C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GBenign
Select item 345201	NM_018075.5(ANO10):c.-83T>C	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345200	NM_018075.5(ANO10):c.-74C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345199	NM_018075.5(ANO10):c.-67C>T	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345198	NM_018075.5(ANO10):c.-31G>C	ANO10, LOC129936579	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 5354	NM_016006.6(ABHD5):c.46_47del (p.Arg16fs)	ABHD5, ANO10 (R16fs)	Microsatellite (frameshift variant +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 5351	NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys)	ABHD5, ANO10 (E7K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign

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Items: 78