CN235586[trait identifier] AND "Center of Medical Genetics and Primary - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127589	NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	MSH6 (T1243S +2 more)	Single nucleotide variant (missense variant)	Inherited ovarian cancer (without breast cancer) +6 more	GConflicting classifications of pathogenicity
Select item 51926	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2 (M192fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 430181	NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)	MC1R (C35Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +4 more	GUncertain significance
Select item 37417	NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)	BRCA1 (L455fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 238447	NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)	SMARCA4 (P135A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GConflicting classifications of pathogenicity

ClinVar