C0027672[trait identifier] AND "Genomic Center, National Cancer Instit - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 567689	NM_000179.3(MSH6):c.2079del (p.Lys693fs)	MSH6 (K563fs +2 more)	Deletion (frameshift variant)	Lynch syndrome 5 +4 more	GPathogenic
Select item 645011	NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu)	CTNNA1 (D113E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1700595	NM_001903.5(CTNNA1):c.1597A>G (p.Lys533Glu)	CTNNA1 (K132E +7 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1696817	NM_000059.4(BRCA2):c.18del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696818	NM_000059.4(BRCA2):c.35_36del (p.Phe11_Phe12insTer)	BRCA2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012164	NM_000059.4(BRCA2):c.728del (p.Asn243fs)	BRCA2 (N243fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1696795	NM_000059.4(BRCA2):c.937del (p.Ser313fs)	BRCA2 (S313fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696796	NM_000059.4(BRCA2):c.966del (p.Lys322_Val323insTer)	BRCA2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696819	NM_000059.4(BRCA2):c.1037del (p.Asn346fs)	BRCA2 (N346fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1012163	NM_000059.4(BRCA2):c.1053del (p.Lys351fs)	BRCA2 (K351fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 266641	NM_000059.4(BRCA2):c.1508del (p.Lys503fs)	BRCA2 (K503fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1696797	NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer)	BRCA2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696798	NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer)	BRCA2	Deletion (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 1696799	NM_000059.4(BRCA2):c.3648del (p.Phe1216fs)	BRCA2 (F1216fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696800	NM_000059.4(BRCA2):c.3708del (p.Ala1237fs)	BRCA2 (A1237fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696801	NM_000059.4(BRCA2):c.3956del (p.Asn1319fs)	BRCA2 (N1319fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696802	NM_000059.4(BRCA2):c.4031del (p.Asn1344fs)	BRCA2 (N1344fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696803	NM_000059.4(BRCA2):c.4904del (p.Phe1634_Leu1635insTer)	BRCA2	Deletion (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1696805	NM_000059.4(BRCA2):c.4948del (p.Ser1650fs)	BRCA2 (S1650fs)	Deletion (frameshift variant)	Gastric cancer +1 more	GPathogenic
Select item 1696806	NM_000059.4(BRCA2):c.5153del (p.Asn1718fs)	BRCA2 (N1718fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696807	NM_000059.4(BRCA2):c.6791del (p.Leu2264fs)	BRCA2 (L2264fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696808	NM_000059.4(BRCA2):c.7340del (p.Asn2447fs)	BRCA2 (N2447fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696809	NM_000059.4(BRCA2):c.7534del (p.Ala2513fs)	BRCA2 (A2513fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696810	NM_000059.4(BRCA2):c.7654del (p.Ile2552fs)	BRCA2 (I2552fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696811	NM_000059.4(BRCA2):c.9491del (p.Asn3164fs)	BRCA2 (N3164fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696812	NM_000059.4(BRCA2):c.10220del (p.Asn3407fs)	BRCA2 (N3407fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 629984	NM_024675.4(PALB2):c.1179del (p.Lys393fs)	PALB2 (K393fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 1696815	NM_007294.4(BRCA1):c.4526del (p.Tyr1509fs)	BRCA1 (Y1462fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1696814	NM_007294.4(BRCA1):c.3970del (p.Gln1323_Met1324insTer)	BRCA1, LOC126862571	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696813	NM_007294.4(BRCA1):c.3101del (p.Asn1034fs)	BRCA1 (N1034fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696794	NM_007294.4(BRCA1):c.2857del (p.Cys953fs)	BRCA1 (C906fs +20 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1696816	NM_007294.4(BRCA1):c.922del (p.Ser308fs)	BRCA1 (S261fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1696804	NM_007294.4(BRCA1):c.302-5del	BRCA1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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Items: 33