"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692756	NM_004064.5(CDKN1B):c.-7G>A	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2681852	NM_004064.5(CDKN1B):c.21T>A (p.Ser7=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809551	NM_004064.5(CDKN1B):c.53C>T (p.Ala18Val)	CDKN1B (A18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 412885	NM_004064.5(CDKN1B):c.54C>T (p.Ala18=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 412891	NM_004064.5(CDKN1B):c.75G>A (p.Lys25=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 788243	NM_004064.5(CDKN1B):c.87C>T (p.Cys29=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 468998	NM_004064.5(CDKN1B):c.126C>T (p.Thr42=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +2 more	GLikely benign
Select item 468999	NM_004064.5(CDKN1B):c.153C>T (p.Asp51=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +2 more	GLikely benign
Select item 648766	NM_004064.5(CDKN1B):c.160G>C (p.Glu54Gln)	CDKN1B (E54Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 469003	NM_004064.5(CDKN1B):c.201C>T (p.His67=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +2 more	GLikely benign
Select item 2681851	NM_004064.5(CDKN1B):c.202A>T (p.Lys68Ter)	CDKN1B (K68*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 485499	NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)	CDKN1B (E75D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 469008	NM_004064.5(CDKN1B):c.246C>T (p.Gly82=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 239618	NM_004064.5(CDKN1B):c.258G>A (p.Glu86=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +2 more	GBenign
Select item 469015	NM_004064.5(CDKN1B):c.281C>T (p.Pro94Leu)	CDKN1B (P94L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 702505	NM_004064.5(CDKN1B):c.282C>T (p.Pro94=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 705103	NM_004064.5(CDKN1B):c.283C>G (p.Pro95Ala)	CDKN1B (P95A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 404265	NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser)	CDKN1B (P95S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 307663	NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp)	CDKN1B (V109D)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +2 more	GConflicting classifications of pathogenicity
Select item 493111	NM_004064.5(CDKN1B):c.349C>T (p.Pro117Ser)	CDKN1B (P117S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +2 more	GUncertain significance
Select item 307664	NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)	CDKN1B (I119T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +3 more	GConflicting classifications of pathogenicity
Select item 404264	NM_004064.5(CDKN1B):c.362C>T (p.Ala121Val)	CDKN1B (A121V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 307665	NM_004064.5(CDKN1B):c.373T>A (p.Ser125Thr)	CDKN1B (S125T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +2 more	GBenign/Likely benign
Select item 307666	NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)	CDKN1B (D136G)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +2 more	GConflicting classifications of pathogenicity
Select item 239622	NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)	CDKN1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 412879	NM_004064.5(CDKN1B):c.429G>A (p.Gly143=)	CDKN1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 469028	NM_004064.5(CDKN1B):c.481T>C (p.Ser161Pro)	CDKN1B (S161P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 582241	NM_004064.5(CDKN1B):c.482C>T (p.Ser161Phe)	CDKN1B (S161F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 239625	NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)	CDKN1B (S161C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 239626	NM_004064.5(CDKN1B):c.492C>T (p.Asn164=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1079864	NM_004064.5(CDKN1B):c.501C>T (p.Ala167=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 412880	NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser)	CDKN1B (N173S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1158491	NM_004064.5(CDKN1B):c.525A>G (p.Ser175=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 707715	NM_004064.5(CDKN1B):c.528C>T (p.Asp176=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 404269	NM_004064.5(CDKN1B):c.530G>C (p.Gly177Ala)	CDKN1B (G177A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 412889	NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)	CDKN1B (L193F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic

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Items: 42