ClinVar for MedGen (Select 40277) - ClinVar - NCBI

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

Links from MedGen

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697218	NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter)	BRCA2 (G715*)	Single nucleotide variant (nonsense)	Chordoma	GUncertain significance
Select item 1697217	NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)	BRCA2 (E714A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1697216	NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly)	BRCA2 (E2301G)	Single nucleotide variant (missense variant)	Chordoma	GUncertain significance
Select item 837352	NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)	PALB2 (S133T)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 635175	NM_002430.3(MN1):c.772_776del (p.His258fs)	MN1 (H258fs)	Deletion (frameshift variant)	Chordoma	GLikely pathogenic
Select item 635174	NM_002430.3(MN1):c.785del (p.Gly262fs)	MN1 (G262fs)	Deletion (frameshift variant)	Chordoma	GLikely pathogenic
Select item 419370	NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)	PALB2 (S534A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 232781	NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)	PALB2 (S1165L)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 225856	NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)	PALB2 (V919I)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 216750	NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)	PALB2 (I1035V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 141588	NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)	PALB2 (Q348K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 96793	NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)	BRCA2 (I1173F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 52248	NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)	BRCA2 (T2337I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GUncertain significance
Select item 51493	NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41551	NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)	BRCA2 (E1593D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38155	NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	BRCA2 (R2784W)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 38139	NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)	BRCA2 (N2706S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38104	NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)	BRCA2 (S2522F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37942	NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)	BRCA2 (K1690N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign