Related gene-specific medical variations for Gene (Select 11200) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360871	NM_007194.4(CHEK2):c.1177C>A (p.Pro393Thr)	CHEK2 (P172T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342004	NM_007194.4(CHEK2):c.-7+5_-7+8del	CHEK2, LOC130067165	Deletion (intron variant)	not provided	GUncertain significance
Select item 3247558	NC_000022.10:g.(?_29121104)_(29125326_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247546	NC_000022.10:g.(?_29120157)_(29121088_?)del	CHEK2	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 3247535	NC_000022.10:g.(?_29090010)_(29115483_?)dup	CHEK2	Duplication	Familial cancer of breast	GLikely pathogenic
Select item 3247524	NC_000022.10:g.(?_29099473)_(29130709_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 3247513	NC_000022.10:g.(?_29085113)_(29085213_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 3247502	NC_000022.10:g.(?_29083885)_(29130709_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 3247491	NC_000022.10:g.(?_29085113)_(29099564_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247480	NC_000022.11:g.(?_28695117)_(28703576_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247469	NC_000022.10:g.(?_29083885)_(29115493_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247458	NC_000022.10:g.(?_29120945)_(29121375_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247447	NC_000022.11:g.(?_28687897)_(28689225_?)del	CHEK2	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 3247435	NC_000022.10:g.(?_29095806)_(29095945_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247424	NC_000022.10:g.(?_29115363)_(29115493_?)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 3247413	NC_000022.10:g.(?_29083879)_(29083980_?)del	CHEK2	Deletion	Familial cancer of breast	GLikely pathogenic
Select item 3241163	NM_007194.4(CHEK2):c.481G>A (p.Glu161Lys)	CHEK2 (E161K +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 3241162	NM_007194.4(CHEK2):c.1143G>T (p.Met381Ile)	CHEK2 (M160I +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3241160	NM_007194.4(CHEK2):c.406T>A (p.Tyr136Asn)	CHEK2 (Y136N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3241158	NM_007194.4(CHEK2):c.909-10T>A	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3241157	NM_007194.4(CHEK2):c.841_842del (p.Asn281fs)	CHEK2 (N214fs +3 more)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 3241156	NM_007194.4(CHEK2):c.413C>G (p.Thr138Arg)	CHEK2 (T138R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2690565	NM_007194.4(CHEK2):c.544_551dup (p.Asn184_Asn185insLeuTer)	CHEK2	Duplication (nonsense +3 more)	not provided	GLikely pathogenic
Select item 2681870	NM_007194.4(CHEK2):c.1085_1088del (p.Cys362fs)	CHEK2 (C141fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2680767	NM_007194.4(CHEK2):c.1522del (p.Leu508fs)	CHEK2 (L287fs +4 more)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680766	NM_007194.4(CHEK2):c.592+3A>C	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680762	NM_007194.4(CHEK2):c.91del (p.Ser31fs)	CHEK2 (S31fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680760	NM_007194.4(CHEK2):c.908+2dup	CHEK2	Duplication (splice donor variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680759	NM_007194.4(CHEK2):c.320-3_320del	CHEK2	Deletion (splice acceptor variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680757	NM_007194.4(CHEK2):c.371_372delinsAG (p.Cys124Ter)	CHEK2 (C124* +1 more)	Indel (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680756	NM_007194.4(CHEK2):c.452_453delinsA (p.Gly151fs)	CHEK2 (G151fs +1 more)	Indel (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680755	NM_007194.4(CHEK2):c.846+3A>C	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680753	NM_007194.4(CHEK2):c.528del (p.Gly178fs)	CHEK2 (G178fs +1 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680751	NM_007194.4(CHEK2):c.133A>G (p.Thr45Ala)	CHEK2 (T45A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680750	NM_007194.4(CHEK2):c.683+293C>T	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680749	NM_007194.4(CHEK2):c.653A>T (p.Asp218Val)	CHEK2 (D218V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2680748	NM_007194.4(CHEK2):c.1239del (p.Gly414fs)	CHEK2 (G193fs +4 more)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680746	NM_007194.4(CHEK2):c.549_552del (p.Asn184fs)	CHEK2 (N184fs +1 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680745	NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)	CHEK2 (D6fs)	Insertion (frameshift variant +1 more)	Familial cancer of breast	GPathogenic
Select item 2575943	NM_007194.4(CHEK2):c.1417G>T (p.Ala473Ser)	CHEK2 (A252S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809554	NM_007194.4(CHEK2):c.1219G>C (p.Ala407Pro)	CHEK2 (A186P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1767703	NM_007194.3:c.966_967insSVA	CHEK2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1707509	NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 1330102	NM_007194.4(CHEK2):c.1225G>T (p.Asp409Tyr)	CHEK2 (D188Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324070	NM_007194.4(CHEK2):c.1425dup (p.Thr476fs)	CHEK2 (T255fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1291143	NM_007194.4(CHEK2):c.-7+11T>A	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232772	NM_007194.4(CHEK2):c.-7+62del	CHEK2, LOC130067165	Deletion (intron variant)	not provided	GBenign
Select item 1074669	NC_000022.10:g.(?_29081001)_29140000del	CHEK2	Deletion	Familial cancer of breast	GPathogenic
Select item 1065549	NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup	CHEK2	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1065548	NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup	CHEK2	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 993064	NM_007194.3:c.-72_1632del	CHEK2	Deletion	not provided	GPathogenic
Select item 986728	NG_008150.2:g.14927_51132dup	CHEK2	Duplication	Malignant tumor of breast	GPathogenic
Select item 870642	NG_008150.2:g.(27473_34849)_(43363_46929)dup	CHEK2	Duplication	Familial cancer of breast	GPathogenic
Select item 870293	Single allele	CHEK2	Insertion	Familial cancer of breast	GPathogenic
Select item 870262	Single allele	CHEK2	Insertion	Familial cancer of breast	GPathogenic
Select item 809400	GRCh37/hg19 22q12.1(chr22:29092889-29096019)x1	CHEK2	Copy number loss	not provided	GLikely pathogenic
Select item 809399	GRCh37/hg19 22q12.1(chr22:29083885-29092975)x1	CHEK2	Copy number loss	not provided	GLikely pathogenic
Select item 803660	NM_007194.4(CHEK2):c.-7+4A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 689558	NM_007194.4(CHEK2):c.1504del (p.Glu502fs)	CHEK2 (E281fs +4 more)	Deletion (frameshift variant)	Breast neoplasm	GLikely pathogenic
Select item 670293	NM_007194.4(CHEK2):c.-7+27G>C	LOC130067165, CHEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 584576	NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del	CHEK2	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 511708	NM_007194.4(CHEK2):c.-7+10A>T	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 443282	GRCh37/hg19 22q12.1(chr22:29105415-29115517)x1	CHEK2	Copy number loss	See cases	GLikely pathogenic
Select item 441672	GRCh37/hg19 22q12.1(chr22:29079237-29115517)x3	CHEK2	Copy number gain	See cases	GUncertain significance
Select item 422958	NM_007194.4(CHEK2):c.-7+8A>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 422731	NM_007194.4(CHEK2):c.-7+16dup	CHEK2, LOC130067165	Duplication (intron variant)	not specified	GLikely benign
Select item 420693	NM_007194.4(CHEK2):c.-7+6T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 418770	NM_007194.4(CHEK2):c.-7+4_-7+13del	LOC130067165, CHEK2	Deletion (intron variant)	not provided	GUncertain significance
Select item 391098	NM_007194.4(CHEK2):c.-7+11T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380112	NM_007194.4(CHEK2):c.-7+10A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379731	NM_007194.4(CHEK2):c.-7+8A>G	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 376747	NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala)	CHEK2 (D347A +3 more)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm	GLikely pathogenic
Select item 240744	NM_007194.3(CHEK2):c.320-?_*154+?dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 223674	NM_007194.4(CHEK2):c.-7+136T>C	CHEK2, LOC130067165	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 220786	NM_007194.3(CHEK2):c.684-?_*154+?dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 216638	NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup	CHEK2	Duplication	Familial cancer of breast	GUncertain significance
Select item 126913	NM_007194.4(CHEK2):c.1543-31del	CHEK2	Deletion (intron variant)	not provided	Gnot provided
Select item 126912	NM_007194.4(CHEK2):c.1259+28A>G	CHEK2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 126906	NG_008150.2(CHEK2):g.4991A>G	CHEK2	Single nucleotide variant	not provided	Gnot provided
Select item 126901	NM_007194.4(CHEK2):c.1008+71A>G	CHEK2	Single nucleotide variant (intron variant)	not provided	Gnot provided

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Links from Gene

Items: 80