"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC107303338"[gen - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324378	NM_001018115.3(FANCD2):c.92del (p.Lys31fs)	FANCD2, LOC107303338 (K31fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 1322879	NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)	FANCD2, LOC107303338 (K33fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
Select item 1059288	NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala)	FANCD2, LOC107303338 (V41A)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 939473	NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)	FANCD2, LOC107303338 (F48L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1679032	NM_001018115.3(FANCD2):c.206-20C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 1322877	NM_001018115.3(FANCD2):c.230del (p.Lys77fs)	FANCD2, LOC107303338 (K77fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 435142	NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +2 more	GLikely benign
Select item 1416079	NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)	FANCD2, LOC107303338 (H86Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GUncertain significance
Select item 850071	NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile)	FANCD2, LOC107303338 (V97I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1179043	NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs)	FANCD2, LOC107303338 (E101fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 407781	NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)	FANCD2, LOC107303338 (I104V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 964558	NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys)	FANCD2, LOC107303338 (R119C)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1679035	NM_001018115.3(FANCD2):c.377+17T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 342255	NM_001018115.3(FANCD2):c.378-6_378-5del	FANCD2, LOC107303338	Deletion (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 1564822	NM_001018115.3(FANCD2):c.439-18C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 1617599	NM_001018115.3(FANCD2):c.469T>C (p.Leu157=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1338037	NM_001018115.3(FANCD2):c.531C>G (p.Val177=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1634029	NM_001018115.3(FANCD2):c.571-19A>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 134328	NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)	FANCD2, LOC107303338 (T193A)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 1692056	NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1588069	NM_001018115.3(FANCD2):c.695+19A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1579003	NM_001018115.3(FANCD2):c.696-18T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +2 more	GLikely benign
Select item 1068891	NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)	FANCD2, LOC107303338 (I236fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1094328	NM_001018115.3(FANCD2):c.784-9A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1436760	NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val)	FANCD2, LOC107303338 (L270V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +3 more	GUncertain significance
Select item 640600	NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val)	FANCD2, LOC107303338 (I273V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GUncertain significance
Select item 1337974	NM_001018115.3(FANCD2):c.888+9T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1649186	NM_001018115.3(FANCD2):c.889-9T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 957920	NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp)	FANCD2, LOC107303338 (R315W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 842492	NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)	FANCD2, LOC107303338 (K326E)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 134310	NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)	FANCD2, LOC107303338 (R328Q)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 381559	NM_001018115.3(FANCD2):c.990-1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1487062	NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)	FANCD2, LOC107303338 (G339S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GConflicting classifications of pathogenicity
Select item 1380106	NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val)	FANCD2, LOC107303338 (I343V)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 935595	NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)	FANCD2, LOC107303338 (I360fs)	Insertion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 407782	NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly)	FANCD2, LOC107303338 (E362G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 695992	NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +4 more	GLikely benign
Select item 1419154	NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr)	FANCD2, LOC107303338 (I412T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 342265	NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)	FANCD2, LOC107303338 (S422C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1179148	NM_001018115.3(FANCD2):c.1279-2A>G	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GLikely pathogenic
Select item 929651	NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)	FANCD2, LOC107303338 (V427F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 835119	NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met)	FANCD2, LOC107303338 (L436M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456344	NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)	FANCD2, LOC107303338 (I450V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +3 more	GConflicting classifications of pathogenicity
Select item 571783	NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile)	FANCD2, LOC107303338 (L456I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1089031	NM_001018115.3(FANCD2):c.1414-4A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1319406	NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr)	FANCD2, LOC107303338 (D494Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1692034	NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe)	FANCD2, LOC107303338 (Y534F)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1102643	NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 134312	NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	FANCD2, LOC107303338 (N545S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 1371413	NM_001018115.3(FANCD2):c.1657-5T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 699115	NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
Select item 1482349	NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr)	FANCD2, LOC107303338 (I536T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 827979	NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val)	FANCD2, LOC107303338 (A549V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1434314	NM_001018115.3(FANCD2):c.1766+3A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 1549503	NM_001018115.3(FANCD2):c.1766+16C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 134313	NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	FANCD2, LOC107303338 (P593S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GConflicting classifications of pathogenicity
Select item 241733	NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn)	FANCD2, LOC107303338 (D604N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1449465	NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)	FANCD2, LOC107303338 (Q586* +1 more)	Indel (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 1038302	NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys)	LOC107303338, FANCD2 (Y632C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 414654	NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 582213	NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)	FANCD2, LOC107303338 (Q640H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 901485	NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)	FANCD2, LOC107303338 (D608Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 456350	NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile)	FANCD2, LOC107303338 (V652I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1493775	NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1542983	NM_001018115.3(FANCD2):c.2022-4G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 1019432	NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu)	FANCD2, LOC107303338 (P640L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 700286	NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 565505	NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn)	FANCD2, LOC107303338 (D690N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1692043	NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1591040	NM_001018115.3(FANCD2):c.2269+12A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 902058	NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)	FANCD2, LOC107303338 (P722L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1058412	NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr)	LOC107303338, FANCD2 (M745T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1026310	NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)	FANCD2, LOC107303338 (S747F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 435145	NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser)	FANCD2, LOC107303338 (N791S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GUncertain significance
Select item 1322885	NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	FANCD2, LOC107303338 (R757* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1523758	NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)	FANCD2, LOC107303338 (A799D +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 414647	NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 241736	NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg)	FANCD2, LOC107303338 (P852R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1179138	NM_001018115.3(FANCD2):c.2605+2dup	FANCD2, LOC107303338	Duplication (splice donor variant)	Fanconi anemia complementation group D2 +1 more	GConflicting classifications of pathogenicity
Select item 667394	NM_001018115.3(FANCD2):c.2715+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GPathogenic
Select item 1450317	NM_001018115.3(FANCD2):c.2715+20C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GConflicting classifications of pathogenicity
Select item 1533987	NM_001018115.3(FANCD2):c.2716-15G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GLikely benign
Select item 1408038	NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)	FANCD2, LOC107303338 (T877I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1093001	NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1093659	NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 210980	NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys)	FANCD2, LOC107303338 (S934C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +2 more	GUncertain significance
Select item 407784	NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu)	FANCD2, LOC107303338 (I935L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1075925	NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)	FANCD2, LOC107303338 (E912* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic/Likely pathogenic
Select item 1497582	NM_001018115.3(FANCD2):c.2859+13C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +1 more	GUncertain significance
Select item 577043	NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)	FANCD2, LOC107303338 (V958M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 134320	NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)	FANCD2, LOC107303338 (P989A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance

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: 91