ClinVar (all) for Orgtrack (Select 509122) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376536	NM_000059.4(BRCA2):c.9221T>C (p.Leu3074Pro)	BRCA2 (L1430P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3376486	NM_000059.4(BRCA2):c.4855_4858del (p.Asn1619fs)	BRCA2 (N1619fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 2580193	NM_007294.4(BRCA1):c.3253_3254insAA (p.Arg1085fs)	BRCA1, LOC126862571 (R1014fs +20 more)	Insertion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 1713235	NM_000546.6(TP53):c.715_718dup (p.Ser240fs)	TP53 (S108fs +3 more)	Duplication (frameshift variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 1076307	NM_000059.4(BRCA2):c.2372_2381del (p.Ser791fs)	BRCA2 (S791fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1047302	NM_000059.4(BRCA2):c.8488-3C>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 964438	NM_000059.4(BRCA2):c.97G>A (p.Glu33Lys)	BRCA2 (E33K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 545487	NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)	BRCA2 (T2722I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 530329	NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)	BRIP1 (Y822fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +2 more	GPathogenic/Likely pathogenic
Select item 491647	NM_007194.4(CHEK2):c.847-14_847-2del	CHEK2	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 484205	NM_024675.4(PALB2):c.2748+1G>A	PALB2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 412398	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 128064	NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	CHEK2 (R519* +4 more)	Single nucleotide variant (nonsense)	Familial cancer of breast +6 more	GPathogenic/Likely pathogenic
Select item 52368	NM_000059.4(BRCA2):c.7618-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic