ClinVar for Gene (Select 51099) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3250431	NM_016006.6(ABHD5):c.683dup (p.Leu228fs)	ABHD5 (L187fs +1 more)	Duplication (frameshift variant)	Triglyceride storage disease with ichthyosis	GLikely pathogenic
Select item 3236338	ABHD5, ARG184TER	ABHD5	Single nucleotide variant	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 3236337	NM_016006.6(ABHD5):c.889C>T (p.Arg297Ter)	ABHD5 (R256*)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 3131093	NM_016006.6(ABHD5):c.890G>A (p.Arg297Gln)	ABHD5 (R256Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3131090	NM_016006.6(ABHD5):c.851T>A (p.Met284Lys)	ABHD5 (M243K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3131086	NM_016006.6(ABHD5):c.842T>C (p.Ile281Thr)	ABHD5 (I240T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 3013858	NM_016006.6(ABHD5):c.663T>A (p.Gly221=)	ABHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007214	NM_016006.6(ABHD5):c.507-15T>G	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002085	NM_016006.6(ABHD5):c.661+13G>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2981766	NM_016006.6(ABHD5):c.291T>C (p.Asp97=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906075	NM_016006.6(ABHD5):c.699A>G (p.Lys233=)	ABHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884995	NM_016006.6(ABHD5):c.879C>T (p.Ile293=)	ABHD5	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 2844561	NM_016006.6(ABHD5):c.702A>G (p.Arg234=)	ABHD5	Single nucleotide variant (synonymous 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 2816481	NM_016006.6(ABHD5):c.540T>C (p.Gly180=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806323	NM_016006.6(ABHD5):c.912T>C (p.Ser304=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2789426	NM_016006.6(ABHD5):c.978A>T (p.Gly326=)	ABHD5 (D264V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2785281	NM_016006.6(ABHD5):c.662-19T>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2781688	NM_016006.6(ABHD5):c.651A>G (p.Ala217=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2761983	NM_016006.6(ABHD5):c.961-16G>A	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734489	NM_016006.6(ABHD5):c.507-1G>A	ABHD5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 2628741	NM_016006.6(ABHD5):c.133+1G>A	ABHD5	Single nucleotide variant (splice donor variant)	ABHD5-related disorder	GLikely pathogenic
Select item 2627793	NC_000003.11:g.(?_43743409)_(43744194_?)del	ABHD5	Deletion	Triglyceride storage disease with ichthyosis	GLikely pathogenic
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 2615492	NM_016006.6(ABHD5):c.929C>T (p.Ser310Phe)	ABHD5 (S269F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2574453	NM_016006.6(ABHD5):c.752A>C (p.His251Pro)	ABHD5 (H210P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 2428346	NM_016006.6(ABHD5):c.680G>A (p.Arg227His)	ABHD5 (R186H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421648	NM_016006.6(ABHD5):c.396G>A (p.Val132=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419806	NM_016006.6(ABHD5):c.975A>G (p.Ala325=)	ABHD5 (Q263R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2418615	NM_016006.6(ABHD5):c.810T>C (p.Tyr270=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2416258	NM_016006.6(ABHD5):c.550C>A (p.Arg184=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2299362	NM_016006.6(ABHD5):c.412T>C (p.Trp138Arg)	ABHD5 (W138R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2203347	NM_016006.6(ABHD5):c.773+1del	ABHD5	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2203346	NM_016006.6(ABHD5):c.700C>T (p.Arg234Ter)	ABHD5 (R234* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 (inframe_insertion +3 more)	not provided	GUncertain significance
Select item 2183351	NM_016006.6(ABHD5):c.855C>T (p.His285=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2182195	NM_016006.6(ABHD5):c.911C>T (p.Ser304Phe)	ABHD5 (S304F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 2175572	NM_016006.6(ABHD5):c.1049G>A (p.Ter350=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2175346	NM_016006.6(ABHD5):c.829A>G (p.Met277Val)	ABHD5 (M277V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2174830	NM_016006.6(ABHD5):c.886G>A (p.Ala296Thr)	ABHD5 (A296T +1 more)	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 2151973	NM_016006.6(ABHD5):c.977G>A (p.Gly326Glu)	ABHD5 (G326E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2128068	NM_016006.6(ABHD5):c.647T>C (p.Ile216Thr)	ABHD5 (I175T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127182	NM_016006.6(ABHD5):c.959T>C (p.Ile320Thr)	ABHD5 (I279T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 2118426	NM_016006.6(ABHD5):c.654A>G (p.Gly218=)	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 2109778	NM_016006.6(ABHD5):c.832C>G (p.Leu278Val)	ABHD5 (L237V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2103246	NM_016006.6(ABHD5):c.720C>G (p.Phe240Leu)	ABHD5 (F199L +1 more)	Single nucleotide variant (missense variant)	not provided	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 2097892	NM_016006.6(ABHD5):c.742T>C (p.Tyr248His)	ABHD5 (Y248H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097579	NM_016006.6(ABHD5):c.905G>T (p.Gly302Val)	ABHD5 (G261V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2095972	NM_016006.6(ABHD5):c.463G>C (p.Gly155Arg)	ABHD5 (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091142	NM_016006.6(ABHD5):c.774-8C>G	ABHD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2087404	NM_016006.6(ABHD5):c.508G>T (p.Val170Phe)	ABHD5 (V170F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086382	NM_016006.6(ABHD5):c.720C>T (p.Phe240=)	ABHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084883	NM_016006.6(ABHD5):c.773+7G>T	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081511	NM_016006.6(ABHD5):c.616A>T (p.Thr206Ser)	ABHD5 (T165S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079453	NM_016006.6(ABHD5):c.908A>G (p.Asn303Ser)	ABHD5 (N262S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2077797	NM_016006.6(ABHD5):c.818C>A (p.Ala273Glu)	ABHD5 (A273E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2068182	NM_016006.6(ABHD5):c.300C>G (p.Thr100=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2061440	NM_016006.6(ABHD5):c.432G>A (p.Leu144=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2042266	NM_016006.6(ABHD5):c.726C>T (p.Asp242=)	ABHD5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2033015	NM_016006.6(ABHD5):c.515A>G (p.His172Arg)	ABHD5 (H172R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2019195	NM_016006.6(ABHD5):c.48-20T>C	ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018830	NM_016006.6(ABHD5):c.721G>A (p.Glu241Lys)	ABHD5 (E200K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018806	NM_016006.6(ABHD5):c.936A>G (p.Arg312=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	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 2003895	NM_016006.6(ABHD5):c.735G>A (p.Val245=)	ABHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2000992	NM_016006.6(ABHD5):c.578C>A (p.Pro193Gln)	ABHD5 (P193Q +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 1986005	NM_016006.6(ABHD5):c.507-4A>G	ABHD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1984796	NM_016006.6(ABHD5):c.741A>G (p.Glu247=)	ABHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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