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

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342253	NM_001018115.3(FANCD2):c.-6G>C	FANCD2	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group D2 +1 more	GBenign/Likely benign
Select item 257085	NM_001018115.3(FANCD2):c.64+12G>C	FANCD2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 134319	NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)	FANCD2, LOC107303338 (Q65H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1679031	NM_001018115.3(FANCD2):c.206-28G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679032	NM_001018115.3(FANCD2):c.206-20C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GLikely benign
Select item 1679033	NM_001018115.3(FANCD2):c.234G>A (p.Lys78=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679034	NM_001018115.3(FANCD2):c.273+34C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679035	NM_001018115.3(FANCD2):c.377+17T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GLikely benign
Select item 257083	NM_001018115.3(FANCD2):c.439-16A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +4 more	GBenign
Select item 342257	NM_001018115.3(FANCD2):c.491+10G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134327	NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)	FANCD2, LOC107303338 (I172M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 257084	NM_001018115.3(FANCD2):c.571-31G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 1679037	NM_001018115.3(FANCD2):c.571-29T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 257086	NM_001018115.3(FANCD2):c.695+16G>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 257087	NM_001018115.3(FANCD2):c.784-19C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +4 more	GBenign
Select item 257088	NM_001018115.3(FANCD2):c.990-38C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 257065	NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +5 more	GBenign
Select item 1267415	NM_001018115.3(FANCD2):c.1134+39T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 342260	NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign
Select item 342261	NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 342262	NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +4 more	GBenign/Likely benign
Select item 342263	NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser)	FANCD2, LOC107303338 (N405S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +3 more	GBenign
Select item 1679038	NM_001018115.3(FANCD2):c.1278+115G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 134311	NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	FANCD2, LOC107303338 (L456R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GBenign/Likely benign
Select item 257067	NM_001018115.3(FANCD2):c.1413+38A>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GBenign
Select item 257068	NM_001018115.3(FANCD2):c.1414-23T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1679039	NM_001018115.3(FANCD2):c.1425T>C (p.Gly475=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 241732	NM_001018115.3(FANCD2):c.1440T>C (p.His480=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257070	NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +4 more	GBenign
Select item 1300336	NM_001018115.3(FANCD2):c.1546-81T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1254158	NM_001018115.3(FANCD2):c.1546-58A>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1679041	NM_001018115.3(FANCD2):c.1656+3A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679042	NM_001018115.3(FANCD2):c.1656+37T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679043	NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 699115	NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +2 more	GLikely benign
Select item 1679044	NM_001018115.3(FANCD2):c.1764C>G (p.Asp588Glu)	FANCD2, LOC107303338 (D551E +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1253746	NM_001018115.3(FANCD2):c.1828-77C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 134314	NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	FANCD2, LOC107303338 (Q623P +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 210979	NM_001018115.3(FANCD2):c.2021+31C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1679045	NM_001018115.3(FANCD2):c.2022-27A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GBenign
Select item 218824	NM_001018115.3(FANCD2):c.2022-5C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1679046	NM_001018115.3(FANCD2):c.2053G>A (p.Gly685Arg)	FANCD2, LOC107303338 (G648R +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 257072	NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GBenign/Likely benign
Select item 257073	NM_001018115.3(FANCD2):c.2269+37A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 342367	NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +2 more	GBenign/Likely benign
Select item 414647	NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 134318	NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)	FANCD2, LOC107303338 (G901V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 257075	NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 1679047	NM_001018115.3(FANCD2):c.2715+21C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679048	NM_001018115.3(FANCD2):c.2715+108C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1221286	NM_001018115.3(FANCD2):c.2715+113C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1679049	NM_001018115.3(FANCD2):c.2715+129G>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1267277	NM_001018115.3(FANCD2):c.2716-68G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 257076	NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 1679050	NM_001018115.3(FANCD2):c.2963T>C (p.Val988Ala)	FANCD2, LOC107303338 (V951A +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 257077	NM_001018115.3(FANCD2):c.2976+36T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1214412	NM_001018115.3(FANCD2):c.2976+47A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 342373	NM_001018115.3(FANCD2):c.3105+15C>T	FANCD2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GBenign/Likely benign
Select item 1679051	NM_001018115.3(FANCD2):c.3300G>A (p.Gln1100=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679053	NM_001018115.3(FANCD2):c.3466+32T>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 257078	NM_001018115.3(FANCD2):c.3560+42dup	FANCD2, FANCD2OS	Duplication (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1679054	NM_001018115.3(FANCD2):c.3561-26G>A	FANCD2OS, FANCD2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1300393	NM_001018115.3(FANCD2):c.3684-22G>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 257079	NM_001018115.3(FANCD2):c.3849+13A>G	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 1679055	NM_001018115.3(FANCD2):c.3850-72G>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679056	NM_001018115.3(FANCD2):c.3963+8C>T	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1679057	NM_001018115.3(FANCD2):c.3964-67A>G	FANCD2OS, FANCD2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 414649	NM_001018115.3(FANCD2):c.4038+8G>A	FANCD2, FANCD2OS	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 1679058	NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg)	FANCD2, FANCD2OS (H1319R +2 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 257081	NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 257082	NM_001018115.3(FANCD2):c.4185+33T>C	FANCD2OS, FANCD2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 342381	NM_001018115.3(FANCD2):c.4281+172G>A	FANCD2, FANCD2OS	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +2 more	GBenign
Select item 342383	NM_001018115.3(FANCD2):c.4281+197A>G	FANCD2OS, FANCD2	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group D2 +2 more	GBenign

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Items: 74