"Ambry Genetics"[submitter] AND "KIT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 826116	NM_000222.3(KIT):c.-5C>T	KIT	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 656371	NM_000222.3(KIT):c.7G>C (p.Gly3Arg)	KIT (G3R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 528632	NM_000222.3(KIT):c.9C>G (p.Gly3=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1792144	NM_000222.3(KIT):c.10G>T (p.Ala4Ser)	KIT (A4S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 940259	NM_000222.3(KIT):c.11C>T (p.Ala4Val)	KIT (A4V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 2568304	NM_000222.3(KIT):c.12T>G (p.Ala4=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1769384	NM_000222.3(KIT):c.12T>C (p.Ala4=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1140875	NM_000222.3(KIT):c.15C>T (p.Arg5=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 458881	NM_000222.3(KIT):c.15C>G (p.Arg5=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1782275	NM_000222.3(KIT):c.18C>T (p.Gly6=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 571929	NM_000222.3(KIT):c.19G>A (p.Ala7Thr)	KIT (A7T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1785877	NM_000222.3(KIT):c.20C>G (p.Ala7Gly)	KIT (A7G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1787596	NM_000222.3(KIT):c.21C>T (p.Ala7=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1789276	NM_000222.3(KIT):c.22T>G (p.Trp8Gly)	KIT (W8G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 949557	NM_000222.3(KIT):c.31C>T (p.Leu11Phe)	KIT (L11F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1735052	NM_000222.3(KIT):c.37G>C (p.Val13Leu)	KIT (V13L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1737834	NM_000222.3(KIT):c.40C>T (p.Leu14=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1361054	NM_000222.3(KIT):c.44T>C (p.Leu15Pro)	KIT (L15P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1118705	NM_000222.3(KIT):c.45C>G (p.Leu15=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 415820	NM_000222.3(KIT):c.45C>T (p.Leu15=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3288739	NM_000222.3(KIT):c.46C>T (p.Leu16=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1743190	NM_000222.3(KIT):c.47T>C (p.Leu16Pro)	KIT (L16P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1743927	NM_000222.3(KIT):c.48A>G (p.Leu16=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 458951	NM_000222.3(KIT):c.50T>C (p.Leu17Pro)	KIT (L17P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 1143141	NM_000222.3(KIT):c.51G>A (p.Leu17=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 409759	NM_000222.3(KIT):c.52C>T (p.Leu18Phe)	KIT (L18F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1749164	NM_000222.3(KIT):c.56G>T (p.Arg19Leu)	KIT (R19L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 825911	NM_000222.3(KIT):c.56G>A (p.Arg19His)	KIT (R19H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 655472	NM_000222.3(KIT):c.56_57delinsTT (p.Arg19Leu)	KIT (R19L)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 458958	NM_000222.3(KIT):c.57C>T (p.Arg19=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 528589	NM_000222.3(KIT):c.58G>T (p.Val20Phe)	KIT (V20F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826110	NM_000222.3(KIT):c.59T>G (p.Val20Gly)	KIT (V20G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1752165	NM_000222.3(KIT):c.61C>A (p.Gln21Lys)	KIT (Q21K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 458960	NM_000222.3(KIT):c.62A>G (p.Gln21Arg)	KIT (Q21R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1137158	NM_000222.3(KIT):c.63G>A (p.Gln21=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 2587857	NM_000222.3(KIT):c.69C>G (p.Gly23=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 409721	NM_000222.3(KIT):c.69C>T (p.Gly23=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 664537	NM_000222.3(KIT):c.71C>G (p.Ser24Cys)	KIT (S24C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1759757	NM_000222.3(KIT):c.75T>G (p.Ser25=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 579702	NM_000222.3(KIT):c.77A>G (p.Gln26Arg)	KIT (Q26R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2496736	NM_000222.3(KIT):c.78A>G (p.Gln26=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 639417	NM_000222.3(KIT):c.80C>T (p.Pro27Leu)	KIT (P27L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2811203	NM_000222.3(KIT):c.81A>G (p.Pro27=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 2144793	NM_000222.3(KIT):c.82T>G (p.Ser28Ala)	KIT (S28A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 458972	NM_000222.3(KIT):c.84T>C (p.Ser28=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 220935	NM_000222.3(KIT):c.86T>A (p.Val29Glu)	KIT (V29E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 575381	NM_000222.3(KIT):c.89G>T (p.Ser30Ile)	KIT (S30I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1435024	NM_000222.3(KIT):c.90T>A (p.Ser30Arg)	KIT (S30R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 643098	NM_000222.3(KIT):c.91C>G (p.Pro31Ala)	KIT (P31A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1025968	NM_000222.3(KIT):c.95G>A (p.Gly32Glu)	KIT (G32E)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 754142	NM_000222.3(KIT):c.96G>A (p.Gly32=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 409788	NM_000222.3(KIT):c.101C>T (p.Pro34Leu)	KIT (P34L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237232	NM_000222.3(KIT):c.102G>A (p.Pro34=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1004598	NM_000222.3(KIT):c.106C>A (p.Pro36Thr)	KIT (P36T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1788717	NM_000222.3(KIT):c.108A>G (p.Pro36=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2983559	NM_000222.3(KIT):c.114C>T (p.Ser38=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3230649	NM_000222.3(KIT):c.117C>T (p.Ile39=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 963920	NM_000222.3(KIT):c.119A>G (p.His40Arg)	KIT (H40R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1999129	NM_000222.3(KIT):c.121C>G (p.Pro41Ala)	KIT (P41A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 528547	NM_000222.3(KIT):c.125G>A (p.Gly42Glu)	KIT (G42E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 657410	NM_000222.3(KIT):c.127A>G (p.Lys43Glu)	KIT (K43E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 575675	NM_000222.3(KIT):c.133G>A (p.Asp45Asn)	KIT (D45N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 409740	NM_000222.3(KIT):c.135C>A (p.Asp45Glu)	KIT (D45E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 653782	NM_000222.3(KIT):c.140T>C (p.Ile47Thr)	KIT (I47T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 762700	NM_000222.3(KIT):c.144C>T (p.Val48=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1119308	NM_000222.3(KIT):c.147C>A (p.Arg49=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 800005	NM_000222.3(KIT):c.147C>G (p.Arg49=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 415800	NM_000222.3(KIT):c.147C>T (p.Arg49=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 458875	NM_000222.3(KIT):c.148G>A (p.Val50Met)	KIT (V50M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 409722	NM_000222.3(KIT):c.148G>T (p.Val50Leu)	KIT (V50L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 1774175	NM_000222.3(KIT):c.150G>A (p.Val50=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 963632	NM_000222.3(KIT):c.151G>A (p.Gly51Ser)	KIT (G51S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 458877	NM_000222.3(KIT):c.153C>T (p.Gly51=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 376254	NM_000222.3(KIT):c.154G>A (p.Asp52Asn)	KIT (D52N)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 528671	NM_000222.3(KIT):c.156C>T (p.Asp52=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1776101	NM_000222.3(KIT):c.159G>A (p.Glu53=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 458880	NM_000222.3(KIT):c.159G>C (p.Glu53Asp)	KIT (E53D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1777457	NM_000222.3(KIT):c.165G>A (p.Arg55=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 415775	NM_000222.3(KIT):c.166C>T (p.Leu56=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1657414	NM_000222.3(KIT):c.168G>A (p.Leu56=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1150759	NM_000222.3(KIT):c.168G>C (p.Leu56=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1779544	NM_000222.3(KIT):c.175A>T (p.Thr59Ser)	KIT (T59S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 458891	NM_000222.3(KIT):c.177T>C (p.Thr59=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 409780	NM_000222.3(KIT):c.182C>T (p.Pro61Leu)	KIT (P61L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 651529	NM_000222.3(KIT):c.183G>A (p.Pro61=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 577512	NM_000222.3(KIT):c.193A>G (p.Lys65Glu)	KIT (K65E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1374535	NM_000222.3(KIT):c.194A>G (p.Lys65Arg)	KIT (K65R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 415790	NM_000222.3(KIT):c.195A>G (p.Lys65=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1480561	NM_000222.3(KIT):c.199A>G (p.Thr67Ala)	KIT (T67A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 237252	NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	KIT (T67S)	Single nucleotide variant (missense variant)	Malignant tumor of testis +7 more	GConflicting classifications of pathogenicity
Select item 2568319	NM_000222.3(KIT):c.205G>C (p.Glu69Gln)	KIT (E69Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1610195	NM_000222.3(KIT):c.211C>T (p.Leu71=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 528543	NM_000222.3(KIT):c.221C>T (p.Thr74Met)	KIT (T74M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2180296	NM_000222.3(KIT):c.222G>T (p.Thr74=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 415785	NM_000222.3(KIT):c.222G>A (p.Thr74=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 3288764	NM_000222.3(KIT):c.232A>G (p.Lys78Glu)	KIT (K78E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1112727	NM_000222.3(KIT):c.234G>A (p.Lys78=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 578481	NM_000222.3(KIT):c.239A>G (p.Asn80Ser)	KIT (N80S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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