C0080024[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 900130	NM_000222.3(KIT):c.-56A>C	KIT	Single nucleotide variant (5 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 900131	NM_000222.3(KIT):c.-21G>T	KIT	Single nucleotide variant (5 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
Select item 255567	NM_000222.3(KIT):c.-14T>A	KIT	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 221041	NM_000222.3(KIT):c.67+4G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +4 more	GBenign/Likely benign
Select item 901292	NM_000222.3(KIT):c.67+12C>T	KIT	Single nucleotide variant (intron variant)	Mastocytosis +2 more	GConflicting classifications of pathogenicity
Select item 857769	NM_000222.3(KIT):c.78A>C (p.Gln26His)	KIT (Q26H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 221126	NM_000222.3(KIT):c.123A>T (p.Pro41=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +4 more	GBenign/Likely benign
Select item 409722	NM_000222.3(KIT):c.148G>T (p.Val50Leu)	KIT (V50L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 237252	NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	KIT (T67S)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +8 more	GConflicting classifications of pathogenicity
Select item 901844	NM_000222.3(KIT):c.211C>G (p.Leu71Val)	KIT (L71V)	Single nucleotide variant (missense variant)	Mastocytosis +2 more	GUncertain significance
Select item 415776	NM_000222.3(KIT):c.252G>A (p.Thr84=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220764	NM_000222.3(KIT):c.252G>T (p.Thr84=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +5 more	GBenign/Likely benign
Select item 348954	NM_000222.3(KIT):c.301C>T (p.His101Tyr)	KIT (H101Y)	Single nucleotide variant (missense variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 225286	NM_000222.3(KIT):c.464C>T (p.Pro155Leu)	KIT (P155L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 900191	NM_000222.3(KIT):c.615G>A (p.Arg205=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +2 more	GUncertain significance
Select item 41604	NM_000222.3(KIT):c.821C>T (p.Thr274Met)	KIT (T274M +1 more)	Single nucleotide variant (missense variant)	Piebaldism +6 more	GConflicting classifications of pathogenicity
Select item 237285	NM_000222.3(KIT):c.878A>G (p.Asn293Ser)	KIT (N293S +1 more)	Single nucleotide variant (missense variant)	KIT-related condition +4 more	GConflicting classifications of pathogenicity
Select item 41606	NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	KIT (T304A +1 more)	Single nucleotide variant (missense variant)	Piebaldism +3 more	GConflicting classifications of pathogenicity
Select item 161260	NM_000222.3(KIT):c.952A>G (p.Met318Val)	KIT (M318V +1 more)	Single nucleotide variant (missense variant)	Piebaldism +4 more	GConflicting classifications of pathogenicity
Select item 458979	NM_000222.3(KIT):c.978C>T (p.Asn326=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 221149	NM_000222.3(KIT):c.1119C>T (p.Tyr373=)	KIT	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 237235	NM_000222.3(KIT):c.1120G>A (p.Val374Ile)	KIT (V374I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 409770	NM_000222.3(KIT):c.1139C>T (p.Thr380Met)	KIT (T380M +1 more)	Single nucleotide variant (missense variant)	Piebaldism +3 more	GUncertain significance
Select item 528635	NM_000222.3(KIT):c.1185C>A (p.Ser395=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 134629	NM_000222.3(KIT):c.1195G>A (p.Val399Ile)	KIT (V399I +1 more)	Single nucleotide variant (missense variant)	Mastocytosis +5 more	GConflicting classifications of pathogenicity
Select item 576821	NM_000222.3(KIT):c.1264G>A (p.Val422Met)	KIT (V422M +1 more)	Single nucleotide variant (missense variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 237238	NM_000222.3(KIT):c.1274T>A (p.Met425Lys)	KIT (M425K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 237242	NM_000222.3(KIT):c.1383A>G (p.Thr461=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 134621	NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	KIT (V530I +3 more)	Single nucleotide variant (missense variant)	Mastocytosis +5 more	GConflicting classifications of pathogenicity
Select item 237248	NM_000222.3(KIT):c.1594G>A (p.Val532Ile)	KIT (V532I +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 409741	NM_000222.3(KIT):c.1618G>C (p.Val540Leu)	KIT (V540L +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 41599	NM_000222.3(KIT):c.1621A>C (p.Met541Leu)	KIT (M541L +3 more)	Single nucleotide variant (missense variant)	Piebaldism +5 more	GBenign/Likely benign
Select item 255569	NM_000222.3(KIT):c.1638A>G (p.Lys546=)	KIT	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 220634	NM_000222.3(KIT):c.1674G>A (p.Lys558=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 41600	NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	KIT (G565V +3 more)	Single nucleotide variant (missense variant)	Piebaldism +5 more	GConflicting classifications of pathogenicity
Select item 220914	NM_000222.3(KIT):c.1794A>T (p.Gly598=)	KIT	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 409727	NM_000222.3(KIT):c.1889A>G (p.His630Arg)	KIT (H630R +3 more)	Single nucleotide variant (missense variant)	Piebaldism +3 more	GUncertain significance
Select item 237254	NM_000222.3(KIT):c.2118T>G (p.Leu706=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 409785	NM_000222.3(KIT):c.2234-3C>T	KIT	Single nucleotide variant (intron variant)	Piebaldism +4 more	GConflicting classifications of pathogenicity
Select item 41601	NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)	KIT (A755T +5 more)	Single nucleotide variant (missense variant)	Piebaldism +4 more	GConflicting classifications of pathogenicity
Select item 237260	NM_000222.3(KIT):c.2349C>T (p.Leu783=)	KIT	Single nucleotide variant (synonymous variant)	KIT-related condition +5 more	GConflicting classifications of pathogenicity
Select item 255571	NM_000222.3(KIT):c.2394C>T (p.Ile798=)	KIT	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 237263	NM_000222.3(KIT):c.2484C>T (p.Asn828=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 528556	NM_000222.3(KIT):c.2562C>G (p.Ser854=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 255572	NM_000222.3(KIT):c.2586G>C (p.Leu862=)	KIT	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 220917	NM_000222.3(KIT):c.2622G>A (p.Pro874=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +4 more	GConflicting classifications of pathogenicity
Select item 237268	NM_000222.3(KIT):c.2670C>T (p.Leu890=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237270	NM_000222.3(KIT):c.2802+9A>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 221133	NM_000222.3(KIT):c.2805T>A (p.Ile935=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +6 more	GBenign/Likely benign
Select item 348955	NM_000222.3(KIT):c.2847C>T (p.Pro949=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +5 more	GBenign
Select item 409716	NM_000222.3(KIT):c.2848G>A (p.Val950Met)	KIT (V950M +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 348956	NM_000222.3(KIT):c.2923G>C (p.Asp975His)	KIT (D975H +5 more)	Single nucleotide variant (missense variant)	Mastocytosis +2 more	GUncertain significance
Select item 902104	NM_000222.3(KIT):c.*17G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 902987	NM_000222.3(KIT):c.*37T>C	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 902988	NM_000222.3(KIT):c.*66T>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign/Likely benign
Select item 348957	NM_000222.3(KIT):c.*149C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign
Select item 348958	NM_000222.3(KIT):c.*198A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348960	NM_000222.3(KIT):c.*252G>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 900491	NM_000222.3(KIT):c.*299G>C	KIT	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 348961	NM_000222.3(KIT):c.*352A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign/Likely benign
Select item 348962	NM_000222.3(KIT):c.*368C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 902162	NM_000222.3(KIT):c.*381C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 902163	NM_000222.3(KIT):c.*390A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348963	NM_000222.3(KIT):c.*393A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 902164	NM_000222.3(KIT):c.*530A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 903042	NM_000222.3(KIT):c.*575A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348964	NM_000222.3(KIT):c.*597C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 899420	NM_000222.3(KIT):c.*701A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348965	NM_000222.3(KIT):c.*790A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
Select item 899421	NM_000222.3(KIT):c.*888T>C	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
Select item 900542	NM_000222.3(KIT):c.*929G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GConflicting classifications of pathogenicity
Select item 348966	NM_000222.3(KIT):c.*1059C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348967	NM_000222.3(KIT):c.*1086C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 902211	NM_000222.3(KIT):c.*1087G>C	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348968	NM_000222.3(KIT):c.*1101A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 903094	NM_000222.3(KIT):c.*1190A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 903095	NM_000222.3(KIT):c.*1220C>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
Select item 348969	NM_000222.3(KIT):c.*1241G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
Select item 348970	NM_000222.3(KIT):c.1487_1490del	KIT	Deletion (3 prime UTR variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 348971	NM_000222.3(KIT):c.*1524A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GBenign/Likely benign
Select item 899466	NM_000222.3(KIT):c.*1577T>C	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 348972	NM_000222.3(KIT):c.*1704G>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign
Select item 348973	NM_000222.3(KIT):c.*1791G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign/Likely benign
Select item 348974	NM_000222.3(KIT):c.*1808A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 902286	NM_000222.3(KIT):c.*1834A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 902287	NM_000222.3(KIT):c.*2017T>C	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
Select item 902288	NM_000222.3(KIT):c.*2041A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 903157	NM_000222.3(KIT):c.*2056G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
Select item 912051	NM_003068.5(SNAI2):c.*1111G>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 912052	NM_003068.5(SNAI2):c.*1026G>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363257	NM_003068.5(SNAI2):c.*964G>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909144	NM_003068.5(SNAI2):c.*919T>C	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363258	NM_003068.5(SNAI2):c.*773C>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909145	NM_003068.5(SNAI2):c.*512T>C	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909146	NM_003068.5(SNAI2):c.*429G>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909147	NM_003068.5(SNAI2):c.*428C>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909148	NM_003068.5(SNAI2):c.*420C>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363259	NM_003068.5(SNAI2):c.*340T>G	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363260	NM_003068.5(SNAI2):c.*334T>G	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363261	NM_003068.5(SNAI2):c.*149C>A	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GLikely benign

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