ABHD5[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627677	NC_000003.12:g.43688574_43691430del	ABHD5, ANO10 +1 more	Deletion (intron variant)	Triglyceride storage disease with ichthyosis	GLikely pathogenic
Select item 1333046	NC_000003.12:g.43690694A>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673914	NM_016006.4(ABHD5):c.-294T>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670436	NM_016006.4(ABHD5):c.-248C>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670437	NM_016006.4(ABHD5):c.-242G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218949	NC_000003.12:g.43690823G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 345207	NM_016006.5(ABHD5):c.-91C>G	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	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 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 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 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 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 345213	NM_016006.6(ABHD5):c.-19C>T	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
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 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 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 345214	NM_016006.6(ABHD5):c.12G>A (p.Glu4=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
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 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 523800	NM_016006.6(ABHD5):c.16G>T (p.Glu6Ter)	ABHD5, ANO10 (E6*)	Single nucleotide variant (nonsense +2 more)	not provided	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
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 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 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 345215	NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)	ABHD5, ANO10 (D9G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 345216	NM_016006.6(ABHD5):c.39C>T (p.Thr13=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
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 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 901882	NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)	ABHD5, ANO10 (E15K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 2190391	NM_016006.6(ABHD5):c.47+6C>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1988625	NM_016006.6(ABHD5):c.47+6C>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2820907	NM_016006.6(ABHD5):c.47+13G>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990337	NM_016006.6(ABHD5):c.47+13G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925173	NM_016006.6(ABHD5):c.47+19G>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561378	NM_016006.6(ABHD5):c.47+19G>C	ABHD5, ANO10	Single nucleotide variant (intron variant)	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 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 1205281	NM_016006.6(ABHD5):c.48-203T>C	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019195	NM_016006.6(ABHD5):c.48-20T>C	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004390	NM_016006.6(ABHD5):c.48-6C>T	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748282	NM_016006.6(ABHD5):c.48-4C>G	ABHD5	Single nucleotide variant (intron variant)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 1957340	NM_016006.6(ABHD5):c.63T>C (p.Thr21=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2071193	NM_016006.6(ABHD5):c.66T>C (p.Gly22=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1359072	NM_016006.6(ABHD5):c.70C>T (p.Leu24Phe)	ABHD5 (L24F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2153956	NM_016006.6(ABHD5):c.87T>C (p.Pro29=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2464461	NM_016006.6(ABHD5):c.89C>T (p.Thr30Met)	ABHD5 (T30M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2178266	NM_016006.6(ABHD5):c.90G>A (p.Thr30=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 5348	NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter)	ABHD5 (S33*)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 2991346	NM_016006.6(ABHD5):c.133T>A (p.Cys45Ser)	ABHD5 (C45S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628741	NM_016006.6(ABHD5):c.133+1G>A	ABHD5	Single nucleotide variant (splice donor variant)	ABHD5-related disorder	GLikely pathogenic
Select item 1394037	NM_016006.6(ABHD5):c.133+6G>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1943064	NM_016006.6(ABHD5):c.133+20A>G	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270179	NM_016006.6(ABHD5):c.134-197C>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921114	NM_016006.6(ABHD5):c.134-11G>C	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 5349	NM_016006.6(ABHD5):c.134-2A>G	ABHD5	Single nucleotide variant (splice acceptor variant)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 1946580	NM_016006.6(ABHD5):c.140C>T (p.Pro47Leu)	ABHD5 (P47L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905927	NM_016006.6(ABHD5):c.145A>G (p.Thr49Ala)	ABHD5 (T8A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2789125	NM_016006.6(ABHD5):c.162T>A (p.Pro54=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901627	NM_016006.6(ABHD5):c.167G>A (p.Arg56His)	ABHD5 (R15H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2048069	NM_016006.6(ABHD5):c.169A>G (p.Ile57Val)	ABHD5 (I57V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3323125	NM_016006.6(ABHD5):c.181A>G (p.Asn61Asp)	ABHD5 (N20D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1632173	NM_016006.6(ABHD5):c.195A>G (p.Thr65=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 902780	NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn)	ABHD5 (K26N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 716845	NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu)	ABHD5 (F27L +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 724878	NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr)	ABHD5 (I72T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1991905	NM_016006.6(ABHD5):c.221A>G (p.Asn74Ser)	ABHD5 (N33S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528884	NM_016006.6(ABHD5):c.228T>C (p.Thr76=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 345217	NM_016006.6(ABHD5):c.228T>G (p.Thr76=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1651331	NM_016006.6(ABHD5):c.258A>C (p.Gly86=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 1991836	NM_016006.6(ABHD5):c.262C>G (p.Leu88Val)	ABHD5 (L47V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783617	NM_016006.6(ABHD5):c.282T>C (p.Asn94=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2694886	NM_016006.6(ABHD5):c.285del (p.Phe95fs)	ABHD5 (F54fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2981766	NM_016006.6(ABHD5):c.291T>C (p.Asp97=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1961353	NM_016006.6(ABHD5):c.295T>G (p.Cys99Gly)	ABHD5 (C99G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2203963	NM_016006.6(ABHD5):c.299C>G (p.Thr100Ser)	ABHD5 (T100S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2068182	NM_016006.6(ABHD5):c.300C>G (p.Thr100=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2029774	NM_016006.6(ABHD5):c.314A>G (p.Tyr105Cys)	ABHD5 (Y105C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928051	NM_016006.6(ABHD5):c.324C>T (p.Asp108=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2148772	NM_016006.6(ABHD5):c.327A>G (p.Leu109=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2110392	NM_016006.6(ABHD5):c.328T>C (p.Leu110=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2572486	NM_016006.6(ABHD5):c.337G>A (p.Gly113Arg)	ABHD5 (G113R +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 523801	NM_016006.6(ABHD5):c.340C>T (p.Arg114Ter)	ABHD5 (R114* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 445947	NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu)	ABHD5 (R114L +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 587418	NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn)	ABHD5 (S115N +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345218	NM_016006.6(ABHD5):c.345T>C (p.Ser115=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 2218462	NM_016006.6(ABHD5):c.352C>A (p.Pro118Thr)	ABHD5 (P118T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403735	NM_016006.6(ABHD5):c.362A>T (p.Asp121Val)	ABHD5 (D80V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2099897	NM_016006.6(ABHD5):c.379G>A (p.Val127Met)	ABHD5 (V127M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976322	NM_016006.6(ABHD5):c.386A>G (p.Asn129Ser)	ABHD5 (N129S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5350	NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro)	ABHD5 (Q130P +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis	GPathogenic

<< First< Prev

Page of 4