ClinVar for MedGen (Select 82780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627793	NC_000003.11:g.(?_43743409)_(43744194_?)del	ABHD5	Deletion	Triglyceride storage disease with ichthyosis	GLikely pathogenic
Select item 2627677	NM_001346468.2(ANO10):c.-12+87_-12+2943del	ABHD5, ANO10 +1 more	Deletion (intron variant)	Triglyceride storage disease with ichthyosis	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 1693338	NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)	ABHD5 (E295* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1651331	NM_016006.6(ABHD5):c.258A>C (p.Gly86=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323838	NM_016006.6(ABHD5):c.838C>T (p.Arg280Ter)	ABHD5 (R239* +1 more)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis	GLikely pathogenic
Select item 996655	NM_016006.6(ABHD5):c.836del (p.Gln279fs)	ABHD5 (Q238fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 977526	NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)	ABHD5 (Y229* +1 more)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 973467	NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)	ABHD5 (R143* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 902908	NM_016006.6(ABHD5):c.*2500A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902907	NM_016006.6(ABHD5):c.*2492C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902906	NM_016006.6(ABHD5):c.*2349T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902842	NM_016006.6(ABHD5):c.*1076G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902781	NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly)	ABHD5 (C140G +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
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 902076	NM_016006.6(ABHD5):c.*4188A>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902075	NM_016006.6(ABHD5):c.*3885G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902074	NM_016006.6(ABHD5):c.*3875A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902073	NM_016006.6(ABHD5):c.*3832C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902015	NM_016006.6(ABHD5):c.*2206G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902014	NM_016006.6(ABHD5):c.*2128T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902013	NM_016006.6(ABHD5):c.*2109T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902012	NM_016006.6(ABHD5):c.*2099A>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 902011	NM_016006.6(ABHD5):c.*2048T>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901945	NM_016006.6(ABHD5):c.*916C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901944	NM_016006.6(ABHD5):c.*848C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901943	NM_016006.6(ABHD5):c.*464A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901942	NM_016006.6(ABHD5):c.*392T>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
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 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 901504	NM_016006.6(ABHD5):c.*3700T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901503	NM_016006.6(ABHD5):c.*3292G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901389	NM_016006.6(ABHD5):c.*227T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901388	NM_016006.6(ABHD5):c.*154A>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 901387	NM_016006.6(ABHD5):c.*96A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GLikely benign
Select item 901386	NM_016006.6(ABHD5):c.*57T>C	ABHD5	Single nucleotide variant (3 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 900349	NM_016006.6(ABHD5):c.*3171G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900348	NM_016006.6(ABHD5):c.*2540A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900286	NM_016006.6(ABHD5):c.*1596A>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900285	NM_016006.6(ABHD5):c.*1537C>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900284	NM_016006.6(ABHD5):c.*1485A>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900237	NM_016006.6(ABHD5):c.984T>C (p.Tyr328=)	ABHD5 (M266T)	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 900236	NM_016006.6(ABHD5):c.961-15C>T	ABHD5	Single nucleotide variant (intron variant)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 900235	NM_016006.6(ABHD5):c.444C>T (p.Ile148=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 872540	NM_016006.6(ABHD5):c.730dup (p.Thr244fs)	ABHD5 (T203fs +1 more)	Duplication (frameshift variant)	Triglyceride storage disease with ichthyosis +1 more	GPathogenic/Likely pathogenic
Select item 812597	NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg)	ABHD5 (G230R +1 more)	Single nucleotide variant (missense variant +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
Select item 748282	NM_016006.6(ABHD5):c.48-4C>G	ABHD5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 724878	NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr)	ABHD5 (I72T +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis +2 more	GBenign/Likely benign
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 +2 more	GBenign
Select item 619125	NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter)	ABHD5 (R312* +1 more)	Single nucleotide variant (nonsense +2 more)	Triglyceride storage disease with ichthyosis	GPathogenic
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 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 369420	NM_016006.5(ABHD5):c.-114A>G	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 345285	NM_016006.6(ABHD5):c.*4189C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GLikely benign
Select item 345284	NM_016006.6(ABHD5):c.*4147G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345283	NM_016006.6(ABHD5):c.*3952T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345282	NM_016006.6(ABHD5):c.*3833G>T	ABHD5	Single nucleotide variant (non-coding transcript variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345281	NM_016006.6(ABHD5):c.*3806T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345280	NM_016006.6(ABHD5):c.*3761A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345279	NM_016006.6(ABHD5):c.*3755G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345278	NM_016006.6(ABHD5):c.*3730C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345277	NM_016006.6(ABHD5):c.*3680A>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345276	NM_016006.6(ABHD5):c.*3671A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345275	NM_016006.6(ABHD5):c.*3372A>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GLikely benign
Select item 345274	NM_016006.6(ABHD5):c.*3289ACAG[1]	ABHD5	Microsatellite (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345273	NM_016006.6(ABHD5):c.*3253A>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345272	NM_016006.6(ABHD5):c.*3186C>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345271	NM_016006.6(ABHD5):c.3050_3051del	ABHD5	Deletion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345270	NM_016006.6(ABHD5):c.*2965C>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345269	NM_016006.6(ABHD5):c.*2935C>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345268	NM_016006.6(ABHD5):c.*2926G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345267	NM_016006.6(ABHD5):c.*2718del	ABHD5	Deletion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345266	NM_016006.6(ABHD5):c.*2717dup	ABHD5	Duplication (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345265	NM_016006.6(ABHD5):c.*2542A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345264	NM_016006.6(ABHD5):c.*2508A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345263	NM_016006.6(ABHD5):c.*2463A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345262	NM_016006.6(ABHD5):c.*2445T>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345261	NM_016006.6(ABHD5):c.*2392dup	ABHD5	Duplication (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345260	NM_016006.6(ABHD5):c.*2324G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345259	NM_016006.6(ABHD5):c.*2304G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345258	NM_016006.6(ABHD5):c.*2137A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345257	NM_016006.6(ABHD5):c.*2064G>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345256	NM_016006.6(ABHD5):c.*2057A>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345255	NM_016006.6(ABHD5):c.*1957G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345254	NM_016006.6(ABHD5):c.*1934del	ABHD5	Deletion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345253	NM_016006.6(ABHD5):c.*1895C>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345252	NM_016006.6(ABHD5):c.*1863G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345251	NM_016006.6(ABHD5):c.*1860del	ABHD5	Deletion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 345250	NM_016006.6(ABHD5):c.*1834C>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345249	NM_016006.6(ABHD5):c.1758_1759insG	ABHD5	Insertion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GLikely benign
Select item 345248	NM_016006.6(ABHD5):c.*1757A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345247	NM_016006.6(ABHD5):c.*1756G>T	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345246	NM_016006.6(ABHD5):c.*1729T>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345245	NM_016006.6(ABHD5):c.*1662A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345244	NM_016006.6(ABHD5):c.*1613T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345243	NM_016006.6(ABHD5):c.*1568T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345242	NM_016006.6(ABHD5):c.*1566G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345241	NM_016006.6(ABHD5):c.*1466T>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345240	NM_016006.6(ABHD5):c.*1417A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign

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