"National Health Laboratory Service, Universitas Academic Hospital and - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418642	NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)	BARD1 (R751W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 136501	NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	BARD1 (I738V +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 127732	NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	BARD1 (R731G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 230996	NM_000465.4(BARD1):c.2029T>C (p.Phe677Leu)	BARD1 (F677L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1291071	NM_000465.4(BARD1):c.2001+66A>C	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 230212	NM_000465.4(BARD1):c.1973G>A (p.Arg658His)	BARD1 (R658H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 136500	NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	BARD1 (R658C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 142135	NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)	BARD1 (C645R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1178244	NM_000465.4(BARD1):c.1904-67A>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1292338	NM_000465.4(BARD1):c.1811-69T>C	BARD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1292336	NM_000465.4(BARD1):c.1811-77A>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1244161	NM_000465.4(BARD1):c.1811-87C>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 136499	NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)	BARD1 (E580K +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +5 more	GBenign
Select item 676478	NM_000465.4(BARD1):c.1678-60T>C	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 8045	NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)	BARD1 (C557S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1679022	NM_000465.4(BARD1):c.1569-56A>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 1679023	NM_000465.4(BARD1):c.1569-87T>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1230936	NM_000465.4(BARD1):c.1568+51A>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1265663	NM_000465.4(BARD1):c.1568+42T>C	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 256214	NM_000465.4(BARD1):c.1568+14C>T	BARD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 215471	NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)	BARD1 (V488M +1 more)	Inversion (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 183704	NM_000465.4(BARD1):c.1518T>C (p.His506=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 1200514	NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg)	BARD1 (G486R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 438894	NM_000465.4(BARD1):c.1429G>A (p.Val477Met)	BARD1 (V477M +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141739	NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)	BARD1 (N470S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1679025	NM_000465.4(BARD1):c.1396-22del	BARD1	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 818960	NM_000465.4(BARD1):c.1352G>A (p.Gly451Glu)	BARD1 (G432E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 256213	NM_000465.4(BARD1):c.1315-19G>A	BARD1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1292335	NM_000465.4(BARD1):c.1314+29C>G	BARD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 229677	NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)	BARD1 (R406* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 460693	NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu)	BARD1 (I388L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186580	NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)	BARD1 (D385N +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 142769	NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser)	BARD1 (R378S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 460689	NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp)	BARD1 (G373D +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 140795	NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)	BARD1	Deletion	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 142025	NM_000465.4(BARD1):c.1053G>C (p.Thr351=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +4 more	GBenign
Select item 185922	NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)	BARD1 (P281L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 140875	NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)	BARD1 (I258T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 245891	NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)	BARD1 (N255S +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 136496	NM_000465.4(BARD1):c.609A>C (p.Gly203=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 230373	NM_000465.4(BARD1):c.585T>C (p.Ala195=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 648325	NM_000465.4(BARD1):c.401A>G (p.Asn134Ser)	BARD1 (N134S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 1679026	NM_000465.4(BARD1):c.390_391del (p.Ser131fs)	BARD1 (S112fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1292334	NM_000465.4(BARD1):c.215+75A>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1235321	NM_000465.4(BARD1):c.215+68del	BARD1	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 676462	NM_000465.4(BARD1):c.215+59_215+60del	BARD1	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1201365	NM_000465.4(BARD1):c.159-42A>C	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1679027	NM_000465.4(BARD1):c.159-65T>C	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1292333	NM_000465.4(BARD1):c.159-70T>G	BARD1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1174423	NM_000465.4(BARD1):c.158+46A>C	BARD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 182030	NM_000465.4(BARD1):c.90T>A (p.Gly30=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	BARD1-related condition +5 more	GBenign/Likely benign
Select item 334199	NM_000465.4(BARD1):c.-30G>C	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GBenign
Select item 334200	NM_000465.4(BARD1):c.-48T>C	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GBenign
Select item 334201	NM_000465.4(BARD1):c.-78G>A	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 334202	NM_000465.4(BARD1):c.-83C>T	BARD1, LOC129935544	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GBenign/Likely benign

ClinVar

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Items: 55