C0268238[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not provided +1 more	GBenign
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 345215	NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)	ABHD5, ANO10 (D9G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	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 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 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 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)	not provided +2 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)	Triglyceride storage disease with ichthyosis +2 more	GBenign/Likely benign
Select item 345217	NM_016006.6(ABHD5):c.228T>G (p.Thr76=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 445947	NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu)	ABHD5 (R114L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 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 345219	NM_016006.6(ABHD5):c.430T>C (p.Leu144=)	ABHD5	Single nucleotide variant (synonymous variant +1 more)	ABHD5-related condition +2 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 345220	NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile)	ABHD5 (L214I +1 more)	Single nucleotide variant (missense variant +1 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345221	NM_016006.6(ABHD5):c.662-10T>G	ABHD5	Single nucleotide variant (intron variant)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345222	NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu)	ABHD5 (P269L +1 more)	Single nucleotide variant (missense variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345223	NM_016006.6(ABHD5):c.885C>T (p.Gly295=)	ABHD5	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GConflicting classifications of pathogenicity
Select item 345224	NM_016006.6(ABHD5):c.906C>A (p.Gly302=)	ABHD5	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 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 345225	NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg)	ABHD5 (K342R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 345226	NM_016006.6(ABHD5):c.*29G>C	ABHD5	Single nucleotide variant (3 prime UTR variant +1 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345227	NM_016006.6(ABHD5):c.*38T>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
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 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 345228	NM_016006.6(ABHD5):c.*125A>T	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 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 345229	NM_016006.6(ABHD5):c.*281C>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 345230	NM_016006.6(ABHD5):c.*302T>A	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 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 345231	NM_016006.6(ABHD5):c.*707A>G	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 345232	NM_016006.6(ABHD5):c.*879G>A	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 345233	NM_016006.6(ABHD5):c.*1009T>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345234	NM_016006.6(ABHD5):c.*1011G>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 345235	NM_016006.6(ABHD5):c.*1110G>C	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345236	NM_016006.6(ABHD5):c.*1201G>A	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345237	NM_016006.6(ABHD5):c.*1265A>G	ABHD5	Single nucleotide variant (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
Select item 345238	NM_016006.6(ABHD5):c.1346_1348del	ABHD5	Deletion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GBenign
Select item 345239	NM_016006.6(ABHD5):c.*1371A>G	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
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 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 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 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 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 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 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 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 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 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 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 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 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 345251	NM_016006.6(ABHD5):c.*1860del	ABHD5	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 345254	NM_016006.6(ABHD5):c.*1934del	ABHD5	Deletion (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 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 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 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 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 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 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 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 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 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 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 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 345261	NM_016006.6(ABHD5):c.*2392dup	ABHD5	Duplication (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance
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 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 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 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 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 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 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 345266	NM_016006.6(ABHD5):c.*2717dup	ABHD5	Duplication (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 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 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 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 345271	NM_016006.6(ABHD5):c.3050_3051del	ABHD5	Deletion (3 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis	GUncertain significance

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