"PreventionGenetics, part of Exact Sciences"[submitter] AND "FANCB"[ge - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054739	NM_002063.4(GLRA2):c.931-18TC[10]	FANCB, GLRA2	Microsatellite (intron variant)	GLRA2-related disorder	GLikely benign
Select item 3047336	NM_002063.4(GLRA2):c.1074G>A (p.Gln358=)	FANCB, GLRA2	Single nucleotide variant (synonymous variant)	GLRA2-related disorder	GLikely benign
Select item 780683	NM_002063.4(GLRA2):c.1089C>T (p.Asp363=)	FANCB, GLRA2	Single nucleotide variant (synonymous variant)	GLRA2-related disorder +1 more	GBenign
Select item 3051531	NM_002063.4(GLRA2):c.1128G>A (p.Gly376=)	FANCB, GLRA2	Single nucleotide variant (synonymous variant)	GLRA2-related disorder	GLikely benign
Select item 3046679	NM_002063.4(GLRA2):c.1172C>T (p.Ala391Val)	FANCB, GLRA2 (A302V +1 more)	Single nucleotide variant (missense variant)	GLRA2-related disorder	GLikely benign
Select item 2635551	NM_002063.4(GLRA2):c.1221C>G (p.Ile407Met)	FANCB, GLRA2 (I318M +1 more)	Single nucleotide variant (missense variant)	GLRA2-related disorder	GUncertain significance
Select item 414827	NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)	FANCB (T826M)	Single nucleotide variant (missense variant)	FANCB-related disorder +4 more	GBenign/Likely benign
Select item 246615	NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)	FANCB (R818G)	Single nucleotide variant (missense variant)	FANCB-related disorder +5 more	GBenign/Likely benign
Select item 368021	NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)	FANCB (D804G)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GBenign/Likely benign
Select item 1362633	NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met)	FANCB (I777M)	Single nucleotide variant (missense variant)	FANCB-related disorder +1 more	GUncertain significance
Select item 368022	NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)	FANCB (S771G)	Single nucleotide variant (missense variant)	FANCB-related disorder +4 more	GBenign/Likely benign
Select item 2722059	NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 246613	NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)	FANCB (P697L)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GBenign/Likely benign
Select item 246612	NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)	FANCB (G666S)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +4 more	GConflicting classifications of pathogenicity
Select item 696274	NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)	FANCB	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +3 more	GBenign/Likely benign
Select item 2637367	NM_001018113.3(FANCB):c.1837C>G (p.Arg613Gly)	FANCB (R613G)	Single nucleotide variant (missense variant)	FANCB-related disorder	GUncertain significance
Select item 246611	NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	FANCB (F590S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +7 more	GConflicting classifications of pathogenicity
Select item 408160	NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)	FANCB (C574S)	Single nucleotide variant (missense variant)	FANCB-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 281375	NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)	FANCB (T553M)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 93467	NM_001018113.3(FANCB):c.1327-10T>C	FANCB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1467792	NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)	FANCB (R406W)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1024072	NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)	FANCB (D373G)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 2635270	NM_001018113.3(FANCB):c.1105-2A>G	FANCB	Single nucleotide variant (splice acceptor variant)	FANCB-related disorder	GLikely pathogenic
Select item 703318	NM_001018113.3(FANCB):c.1105-26TATT[5]	FANCB	Microsatellite (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 281376	NM_001018113.3(FANCB):c.1105-26TATT[4]	FANCB	Microsatellite (intron variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1312584	NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu)	FANCB (S368L)	Single nucleotide variant (missense variant)	FANCB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 700578	NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)	FANCB (S356L)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 257062	NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)	FANCB (G335E)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GBenign/Likely benign
Select item 197175	NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)	FANCB (I330T)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2635448	NM_001018113.3(FANCB):c.952G>A (p.Val318Ile)	FANCB (V318I)	Single nucleotide variant (missense variant)	FANCB-related disorder	GUncertain significance
Select item 1528262	NM_001018113.3(FANCB):c.939A>G (p.Lys313=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 368030	NM_001018113.3(FANCB):c.869T>C (p.Met290Thr)	FANCB (M290T)	Single nucleotide variant (missense variant)	FANCB-related disorder +3 more	GBenign/Likely benign
Select item 2632184	NM_001018113.3(FANCB):c.851del (p.Pro284fs)	FANCB (P284fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1005025	NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)	FANCB (S267L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B +3 more	GUncertain significance
Select item 1045890	NM_001018113.3(FANCB):c.679T>C (p.Tyr227His)	FANCB (Y227H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 567737	NM_001018113.3(FANCB):c.552G>A (p.Leu184=)	FANCB	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 246616	NM_001018113.3(FANCB):c.507T>C (p.Ser169=)	FANCB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2632592	NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)	FANCB (P140L)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1617236	NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys)	FANCB (N138K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GLikely benign
Select item 2628877	NM_001018113.3(FANCB):c.304A>G (p.Asn102Asp)	FANCB (N102D)	Single nucleotide variant (missense variant +1 more)	FANCB-related disorder +1 more	GUncertain significance
Select item 3040570	NM_001018113.3(FANCB):c.285G>A (p.Val95=)	FANCB	Single nucleotide variant (synonymous variant +1 more)	FANCB-related disorder	GLikely benign

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Items: 41