ClinVar for MedGen (Select 36361) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066083	NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)	KIT (Y895* +5 more)	Single nucleotide variant (nonsense)	Piebaldism	GPathogenic
Select item 2627940	NM_000222.3(KIT):c.2360_2361+4dup	KIT	Duplication (splice donor variant)	Piebaldism	GUncertain significance
Select item 2442396	NM_000222.3(KIT):c.237del (p.Asn80fs)	KIT (N80fs)	Deletion (frameshift variant)	Piebaldism	GPathogenic
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1694457	NM_000222.3(KIT):c.590C>T (p.Ser197Leu)	KIT (S197L)	Single nucleotide variant (missense variant)	Cutaneous mastocytosis +2 more	GLikely pathogenic
Select item 1333929	NM_000222.3(KIT):c.2244_2253del (p.Ile748fs)	KIT (I743fs +5 more)	Deletion (frameshift variant)	Piebaldism	GLikely pathogenic
Select item 1299653	NM_000222.3(KIT):c.2415_2422del (p.Thr806fs)	KIT (T801fs +5 more)	Deletion (frameshift variant)	Piebaldism	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1029723	NM_000222.3(KIT):c.2024A>G (p.Tyr675Cys)	KIT (Y671C +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 912103	NM_003068.5(SNAI2):c.-163G>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 912102	NM_003068.5(SNAI2):c.-40C>G	SNAI2	Single nucleotide variant (5 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 912051	NM_003068.5(SNAI2):c.*1111G>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 910881	NM_003068.5(SNAI2):c.105G>C (p.Glu35Asp)	SNAI2 (E35D)	Single nucleotide variant (missense variant)	Piebaldism	GUncertain significance
Select item 910880	NM_003068.5(SNAI2):c.237C>T (p.Tyr79=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism	GUncertain significance
Select item 909991	NM_003068.5(SNAI2):c.281C>T (p.Thr94Ile)	SNAI2 (T94I)	Single nucleotide variant (missense variant)	Piebaldism	GUncertain significance
Select item 909990	NM_003068.5(SNAI2):c.*46C>T	SNAI2	Single nucleotide variant (3 prime UTR variant)	Piebaldism	GUncertain significance
Select item 909989	NM_003068.5(SNAI2):c.*129G>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 909147	NM_003068.5(SNAI2):c.*428C>T	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 909145	NM_003068.5(SNAI2):c.*512T>C	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 903157	NM_000222.3(KIT):c.*2056G>A	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 903094	NM_000222.3(KIT):c.*1190A>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 902988	NM_000222.3(KIT):c.*66T>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign/Likely benign
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 902288	NM_000222.3(KIT):c.*2041A>G	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
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 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 902211	NM_000222.3(KIT):c.*1087G>C	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 902163	NM_000222.3(KIT):c.*390A>G	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 902104	NM_000222.3(KIT):c.*17G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
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 901292	NM_000222.3(KIT):c.67+12C>T	KIT	Single nucleotide variant (intron variant)	Mastocytosis +2 more	GConflicting classifications of pathogenicity
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 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 900191	NM_000222.3(KIT):c.615G>A (p.Arg205=)	KIT	Single nucleotide variant (synonymous 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 900130	NM_000222.3(KIT):c.-56A>C	KIT	Single nucleotide variant (5 prime UTR variant)	Mastocytosis +2 more	GUncertain significance
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 899421	NM_000222.3(KIT):c.*888T>C	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +2 more	GBenign/Likely benign
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 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 857642	NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	KIT (Y851C +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 708042	NM_003068.5(SNAI2):c.365C>T (p.Ala122Val)	SNAI2 (A122V)	Single nucleotide variant (missense variant)	Piebaldism +3 more	GBenign/Likely benign
Select item 576821	NM_000222.3(KIT):c.1264G>A (p.Val422Met)	KIT (V422M +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 576610	NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)	KIT (R946* +5 more)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +6 more	GUncertain significance
Select item 528635	NM_000222.3(KIT):c.1185C>A (p.Ser395=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 528556	NM_000222.3(KIT):c.2562C>G (p.Ser854=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 458979	NM_000222.3(KIT):c.978C>T (p.Asn326=)	KIT	Single nucleotide variant (synonymous variant)	Mastocytosis +4 more	GConflicting classifications of pathogenicity
Select item 458940	NM_000222.3(KIT):c.302A>G (p.His101Arg)	KIT (H101R)	Single nucleotide variant (missense variant)	Malignant tumor of testis +5 more	GUncertain significance
Select item 458936	NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)	KIT (S967C +5 more)	Single nucleotide variant (missense variant)	Malignant tumor of testis +4 more	GUncertain significance
Select item 458902	NM_000222.3(KIT):c.2057G>A (p.Arg686His)	KIT (R686H +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 415788	NM_000222.3(KIT):c.531C>T (p.Arg177=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
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 409785	NM_000222.3(KIT):c.2234-3C>T	KIT	Single nucleotide variant (intron variant)	Piebaldism +4 more	GConflicting classifications of pathogenicity
Select item 409783	NM_000222.3(KIT):c.2863G>T (p.Val955Leu)	KIT (V955L +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 409779	NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	KIT (L702V +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 409774	NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)	KIT (T963A +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
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 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 409730	NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)	KIT (D765G +5 more)	Single nucleotide variant (missense variant)	Piebaldism +4 more	GUncertain significance
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 409722	NM_000222.3(KIT):c.148G>T (p.Val50Leu)	KIT (V50L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 409716	NM_000222.3(KIT):c.2848G>A (p.Val950Met)	KIT (V950M +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 393590	NM_000222.3(KIT):c.2000T>G (p.Leu667Arg)	KIT (L667R +3 more)	Single nucleotide variant (missense variant)	Piebaldism	GLikely pathogenic
Select item 363273	NM_003068.5(SNAI2):c.-102C>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GLikely benign
Select item 363272	NM_003068.5(SNAI2):c.-82C>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GLikely benign
Select item 363271	NM_003068.5(SNAI2):c.-77C>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363270	NM_003068.5(SNAI2):c.-36T>A	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363269	NM_003068.5(SNAI2):c.-13A>T	SNAI2	Single nucleotide variant (5 prime UTR variant)	Piebaldism	GUncertain significance
Select item 363268	NM_003068.5(SNAI2):c.-9G>T	SNAI2	Single nucleotide variant (5 prime UTR variant)	SNAI2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 363267	NM_003068.5(SNAI2):c.130C>A (p.Gln44Lys)	SNAI2 (Q44K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 363266	NM_003068.5(SNAI2):c.219C>T (p.Leu73=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism	GUncertain significance
Select item 363265	NM_003068.5(SNAI2):c.257T>C (p.Val86Ala)	SNAI2 (V86A)	Single nucleotide variant (missense variant)	Piebaldism	GUncertain significance
Select item 363264	NM_003068.5(SNAI2):c.606A>G (p.Gly202=)	SNAI2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 363263	NM_003068.5(SNAI2):c.729C>T (p.Cys243=)	SNAI2	Single nucleotide variant (synonymous variant)	Piebaldism	GUncertain significance
Select item 363262	NM_003068.5(SNAI2):c.*26C>T	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
Select item 363260	NM_003068.5(SNAI2):c.*334T>G	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 363258	NM_003068.5(SNAI2):c.*773C>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 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 348973	NM_000222.3(KIT):c.*1791G>A	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign/Likely benign
Select item 348972	NM_000222.3(KIT):c.*1704G>T	KIT	Single nucleotide variant (3 prime UTR variant)	Mastocytosis +3 more	GBenign
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 348970	NM_000222.3(KIT):c.1487_1490del	KIT	Deletion (3 prime UTR variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
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 348968	NM_000222.3(KIT):c.*1101A>G	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 348966	NM_000222.3(KIT):c.*1059C>T	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 348964	NM_000222.3(KIT):c.*597C>T	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

<< First< Prev

Page of 2