C2936783[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183700	NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)	EPCAM (M115T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 136033	NM_002354.3(EPCAM):c.859-6A>G	EPCAM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 142557	NM_000251.2(MSH2):c.-185C>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 142538	NM_000251.2(MSH2):c.-161C>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 184476	NM_000251.2(MSH2):c.-148C>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 90485	NM_000251.2(MSH2):c.-118T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GBenign
Select item 141148	NM_000251.2(MSH2):c.-68G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 188160	NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	MSH2 (F23L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 184265	NM_000251.3(MSH2):c.186G>A (p.Gly62=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90945	NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)	MSH2 (Q76* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 415017	NM_000251.3(MSH2):c.276T>G (p.Leu92=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91089	NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	MSH2 (Q130fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91101	NM_000251.3(MSH2):c.471C>A (p.Gly157=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 220157	NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)	MSH2 (Q170E +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 91140	NM_000251.3(MSH2):c.573C>T (p.Leu191=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 91146	NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)	MSH2 (C199R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 2573181	NM_000251.3(MSH2):c.640_645+1del	MSH2	Deletion (splice donor variant)	Lynch syndrome 1	GLikely pathogenic
Select item 220492	NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)	MSH2 (R214I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1692297	NM_000251.3(MSH2):c.704A>C (p.Lys235Thr)	MSH2 (K169T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 218049	NM_000251.3(MSH2):c.793-23G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1 +3 more	GBenign
Select item 135864	NM_000251.3(MSH2):c.819A>G (p.Val273=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91269	NM_000251.3(MSH2):c.984C>T (p.Ala328=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 422795	NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)	MSH2 (P349T +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely pathogenic
Select item 36564	NM_000251.3(MSH2):c.1077-80G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36562	NM_000251.3(MSH2):c.1077-10T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90554	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2 (R383* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 455480	NM_000251.3(MSH2):c.1251T>C (p.Val417=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 90596	NM_000251.3(MSH2):c.1276+47T>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 90597	NM_000251.3(MSH2):c.1276+51C>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36565	NM_000251.3(MSH2):c.1387-8G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 90689	NM_000251.3(MSH2):c.1511-91G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36566	NM_000251.3(MSH2):c.1511-9A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36567	NM_000251.3(MSH2):c.1661+12G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90730	NM_000251.3(MSH2):c.1662-9G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36568	NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36570	NM_000251.3(MSH2):c.1737A>G (p.Lys579=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 90775	NM_000251.3(MSH2):c.1760-62G>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 479792	NM_000251.3(MSH2):c.2028A>C (p.Ser676=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 90910	NM_000251.3(MSH2):c.2154A>G (p.Gln718=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 408514	NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)	MSH2 (I774T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 491808	NM_000251.3(MSH2):c.2459-20C>A	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 232231	NM_000251.3(MSH2):c.2580G>A (p.Ser860=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 91042	NM_000251.3(MSH2):c.2766T>C (p.Phe922=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
Select item 230022	NM_000251.3(MSH2):c.2804G>A (p.Ter935=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 36581	NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	MSH6 (G39E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 42470	NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GBenign
Select item 89416	NM_000179.3(MSH6):c.3557-40T>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 89518	NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)	MSH6	Duplication (nonsense)	Lynch syndrome	GLikely benign
Select item 17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90243	NM_000249.4(MLH1):c.474C>T (p.Asn158=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 1	GBenign
Select item 36555	NM_000249.4(MLH1):c.588+11G>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 36557	NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	MLH1 (I219V +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 42496	NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	MLH1 (V326A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 89614	NM_000249.4(MLH1):c.1038+51C>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 90042	NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)	MLH1 (Q701K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 36547	NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	MLH1 (H718Y +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91327	NM_000535.7(PMS2):c.2007-4G>A	PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 41707	NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	PMS2 (T597S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GBenign
Select item 41705	NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	PMS2 (R563L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 36685	NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)	PMS2 (P470S +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 41716	NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	PMS2 (R20Q)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GBenign
Select item 41713	NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	PMS2 (I18V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely benign
Select item 416460	NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)	MLH3 (M809V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 126587	NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)	PALB2 (K353fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 2691716	NM_000251.3:c.(1759+1_1760-1)_(2458+1_2459-1)del	MSH2	Deletion	Lynch syndrome 1	GPathogenic

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Items: 74