KIT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 1293458	NC_000004.12:g.54657771G>A	KIT	Single nucleotide variant	not provided	GBenign
Select item 900130	NM_000222.3(KIT):c.-56A>C	KIT	Single nucleotide variant (5 prime UTR variant)	Piebaldism +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)	Mastocytosis +4 more	GConflicting classifications of pathogenicity
Select item 645366	NC_000004.11:g.(?_55524172)_(55524258_?)dup	KIT	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 3044158	NM_000222.3(KIT):c.-9G>T	KIT	Single nucleotide variant (5 prime UTR variant)	KIT-related disorder	GLikely benign
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 2573983	NM_000222.3(KIT):c.-1G>A	KIT	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 577559	NM_000222.3(KIT):c.8G>A (p.Gly3Asp)	KIT (G3D)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 581848	NM_000222.3(KIT):c.9C>T (p.Gly3=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
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 2118383	NM_000222.3(KIT):c.10G>A (p.Ala4Thr)	KIT (A4T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 528568	NM_000222.3(KIT):c.10_11delinsTT (p.Ala4Phe)	KIT (A4F)	Indel (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 528500	NM_000222.3(KIT):c.10G>C (p.Ala4Pro)	KIT (A4P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 940259	NM_000222.3(KIT):c.11C>T (p.Ala4Val)	KIT (A4V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 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 2676222	NM_000222.3(KIT):c.13C>T (p.Arg5Cys)	KIT (R5C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1008003	NM_000222.3(KIT):c.13C>G (p.Arg5Gly)	KIT (R5G)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 951561	NM_000222.3(KIT):c.14G>C (p.Arg5Pro)	KIT (R5P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2761315	NM_000222.3(KIT):c.15C>A (p.Arg5=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1140875	NM_000222.3(KIT):c.15C>T (p.Arg5=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +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 2878800	NM_000222.3(KIT):c.16G>A (p.Gly6Ser)	KIT (G6S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 860685	NM_000222.3(KIT):c.17G>A (p.Gly6Asp)	KIT (G6D)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 1503461	NM_000222.3(KIT):c.19G>T (p.Ala7Ser)	KIT (A7S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 571929	NM_000222.3(KIT):c.19G>A (p.Ala7Thr)	KIT (A7T)	Single nucleotide variant (missense variant)	not provided +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 1359604	NM_000222.3(KIT):c.20C>T (p.Ala7Val)	KIT (A7V)	Single nucleotide variant (missense variant)	not provided +1 more	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 1331512	NM_000222.3(KIT):c.21_22del (p.Trp8fs)	KIT (W8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1120784	NM_000222.3(KIT):c.21C>G (p.Ala7=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	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 947164	NM_000222.3(KIT):c.22T>A (p.Trp8Arg)	KIT (W8R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 656007	NM_000222.3(KIT):c.22T>C (p.Trp8Arg)	KIT (W8R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 528522	NM_000222.3(KIT):c.25G>A (p.Asp9Asn)	KIT (D9N)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1465614	NM_000222.3(KIT):c.26A>G (p.Asp9Gly)	KIT (D9G)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 964768	NM_000222.3(KIT):c.29T>C (p.Phe10Ser)	KIT (F10S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	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 2043850	NM_000222.3(KIT):c.32_33insG (p.Cys12fs)	KIT (C12fs)	Insertion (frameshift variant)	Gastrointestinal stromal tumor	GPathogenic
Select item 860993	NM_000222.3(KIT):c.33C>G (p.Leu11=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2086989	NM_000222.3(KIT):c.34T>C (p.Cys12Arg)	KIT (C12R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 842355	NM_000222.3(KIT):c.35G>C (p.Cys12Ser)	KIT (C12S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1101099	NM_000222.3(KIT):c.36C>T (p.Cys12=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
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 1433303	NM_000222.3(KIT):c.37G>A (p.Val13Ile)	KIT (V13I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	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 1718268	NM_000222.3(KIT):c.43C>T (p.Leu15Phe)	KIT (L15F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 1442292	NM_000222.3(KIT):c.49C>G (p.Leu17Val)	KIT (L17V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 458954	NM_000222.3(KIT):c.52C>G (p.Leu18Val)	KIT (L18V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 409759	NM_000222.3(KIT):c.52C>T (p.Leu18Phe)	KIT (L18F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2742125	NM_000222.3(KIT):c.53T>G (p.Leu18Arg)	KIT (L18R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1487867	NM_000222.3(KIT):c.55C>A (p.Arg19Ser)	KIT (R19S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2734936	NM_000222.3(KIT):c.56_57delinsAA (p.Arg19Gln)	KIT (R19Q)	Indel (missense variant)	Gastrointestinal stromal tumor	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 +1 more	GUncertain significance
Select item 1610589	NM_000222.3(KIT):c.57C>G (p.Arg19=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
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 1026234	NM_000222.3(KIT):c.58G>A (p.Val20Ile)	KIT (V20I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 658178	NM_000222.3(KIT):c.65C>T (p.Thr22Ile)	KIT (T22I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1621747	NM_000222.3(KIT):c.67+5_67+18dup	KIT	Duplication (splice donor variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 644888	NM_000222.3(KIT):c.67+3G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 221041	NM_000222.3(KIT):c.67+4G>A	KIT	Single nucleotide variant (intron variant)	Piebaldism +4 more	GBenign/Likely benign
Select item 528626	NM_000222.3(KIT):c.67+5G>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1944291	NM_000222.3(KIT):c.67+6A>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 765739	NM_000222.3(KIT):c.67+7C>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1083586	NM_000222.3(KIT):c.67+8A>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1116438	NM_000222.3(KIT):c.67+9C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 759023	NM_000222.3(KIT):c.67+10del	KIT	Deletion (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 756263	NM_000222.3(KIT):c.67+9C>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 748294	NM_000222.3(KIT):c.67+10C>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1397843	NM_000222.3(KIT):c.67+11G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely 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 1960668	NM_000222.3(KIT):c.67+13G>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign

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