C0010606[trait identifier] AND "Genome Sciences Centre, British Columb - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495131	NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)	BAP1 (E125A)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma	GUncertain significance
Select item 480816	NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)	BAP1 (S63C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 495126	NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)	MECOM (Q546* +5 more)	Single nucleotide variant (nonsense)	Adenoid cystic carcinoma	GUncertain significance
Select item 495140	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495139	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495138	t(6;9)(q23.3;p22.3)	NFIB, MYB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495137	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495136	t(8;9)(q13.1;p22.3)	MYBL1, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495133	NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)	SMARCA2 (R1213P +1 more)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma	GUncertain significance
Select item 495129	NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)	NOTCH1 (A1349fs)	Deletion (frameshift variant)	Adenoid cystic carcinoma	GLikely pathogenic
Select item 495128	NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)	NOTCH1 (C942Y)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma	GLikely pathogenic
Select item 376431	NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)	FGFR2 (C382R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 12579	NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)	KRAS (G12R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
Select item 495130	NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)	ARID2 (Q997*)	Single nucleotide variant (nonsense)	Adenoid cystic carcinoma	GLikely pathogenic
Select item 495135	NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)	STAT3 (N489K +5 more)	Single nucleotide variant (missense variant +1 more)	Adenoid cystic carcinoma	GUncertain significance
Select item 265205	NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)	JAK3 (G589S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 495134	NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)	SMARCB1 (R37P)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma	GUncertain significance
Select item 495132	NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)	BCOR (G1544fs +2 more)	Deletion (frameshift variant)	Adenoid cystic carcinoma	GLikely pathogenic
Select item 495127	NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)	BCOR (E1321* +2 more)	Single nucleotide variant (nonsense)	Adenoid cystic carcinoma	GLikely pathogenic
Select item 495125	NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)	BCOR (A134fs)	Insertion (frameshift variant)	Adenoid cystic carcinoma	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20