C1835817[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126745	NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 142504	NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	PALB2 (T1099R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 141785	NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	PALB2 (M1049T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 126711	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	PALB2 (W1038*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 126708	NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)	PALB2 (E1018D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 126707	NM_024675.4(PALB2):c.3048del (p.Phe1016fs)	PALB2 (F1016fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 141560	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	PALB2	Deletion (frameshift variant)	Breast cancer, susceptibility to +5 more	GPathogenic
Select item 231438	NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)	PALB2 (S950F)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 126683	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	PALB2 (L939W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 138575	NM_024675.4(PALB2):c.2742C>T (p.Phe914=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +5 more	GBenign/Likely benign
Select item 126672	NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	PALB2 (E892K)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 126669	NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)	PALB2 (P864S)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 126661	NM_024675.4(PALB2):c.2586+10A>G	PALB2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 128133	NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)	PALB2 (E837K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +7 more	GConflicting classifications of pathogenicity
Select item 241541	NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	PALB2 (T734N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182765	NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)	PALB2 (T710A)	Single nucleotide variant (missense variant)	PALB2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 185889	NM_024675.4(PALB2):c.2067G>A (p.Ser689=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
Select item 126627	NM_024675.4(PALB2):c.1935G>A (p.Glu645=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +7 more	GBenign/Likely benign
Select item 482037	NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)	PALB2 (K601R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 126610	NM_024675.4(PALB2):c.1606C>T (p.Leu536=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 183798	NM_024675.4(PALB2):c.1599T>C (p.Thr533=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 126608	NM_024675.4(PALB2):c.1572A>G (p.Ser524=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 126604	NM_024675.4(PALB2):c.1470C>T (p.Pro490=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +6 more	GBenign/Likely benign
Select item 187141	NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)	PALB2 (Q460R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 188096	NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)	PALB2 (G439V)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 126592	NM_024675.4(PALB2):c.1194G>A (p.Val398=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 490066	NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)	PALB2 (Q377P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 126778	NM_024675.4(PALB2):c.909C>T (p.Leu303=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +4 more	GBenign/Likely benign
Select item 126769	NM_024675.4(PALB2):c.758dup (p.Ser254fs)	PALB2 (S254fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 126768	NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	PALB2 (L253fs)	Microsatellite (frameshift variant)	Familial cancer of breast +6 more	GPathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	not specified +10 more	GPathogenic
Select item 126781	NM_024675.4(PALB2):c.94C>G (p.Leu32Val)	PALB2 (L32V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126758	NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)	PALB2 (K18R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136128	NM_024675.4(PALB2):c.12T>C (p.Pro4=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity

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: 35