Related gene-specific medical variations for Gene (Select 2187) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350226	NM_002063.4(GLRA2):c.965C>T (p.Ala322Val)	FANCB, GLRA2 (A233V +1 more)	Single nucleotide variant (missense variant)	GLRA2-related disorder	GUncertain significance
Select item 3281628	NM_002063.4(GLRA2):c.1010C>T (p.Ala337Val)	FANCB, GLRA2 (A337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3281627	NM_002063.4(GLRA2):c.1091T>A (p.Val364Asp)	FANCB, GLRA2 (V364D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243682	NC_000023.10:g.(?_14861689)_(14883702_?)dup	FANCB	Duplication	Fanconi anemia	GUncertain significance
Select item 3242020	NM_002063.4(GLRA2):c.1108T>C (p.Phe370Leu)	FANCB, GLRA2 (F281L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GUncertain significance
Select item 3241555	NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)	FANCB (Q524*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group B	GLikely pathogenic
Select item 3100326	NM_002063.4(GLRA2):c.1162G>C (p.Ala388Pro)	FANCB, GLRA2 (A299P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054739	NM_002063.4(GLRA2):c.931-18TC[10]	FANCB, GLRA2	Microsatellite (intron variant)	GLRA2-related disorder	GLikely benign
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 3047336	NM_002063.4(GLRA2):c.1074G>A (p.Gln358=)	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 2693355	NM_002063.4(GLRA2):c.1099G>C (p.Glu367Gln)	FANCB, GLRA2 (E278Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2675464	NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)	FANCB (S28C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group B	GUncertain significance
Select item 2660039	NM_002063.4(GLRA2):c.1350C>G (p.His450Gln)	FANCB, GLRA2 (H361Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2582661	NM_001018113.3(FANCB):c.972del (p.Lys324fs)	FANCB (K324fs)	Deletion (frameshift variant)	Fanconi anemia complementation group B	GLikely pathogenic
Select item 2441344	NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)	FANCB (S791R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group B	GUncertain significance
Select item 2335008	NM_002063.4(GLRA2):c.1259C>T (p.Thr420Met)	FANCB, GLRA2 (T331M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239083	NM_002063.4(GLRA2):c.1081-5G>A	FANCB, GLRA2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2232252	NM_002063.4(GLRA2):c.931-18TC[7]	FANCB, GLRA2	Microsatellite (intron variant)	Inborn genetic diseases	GBenign
Select item 1705404	NM_002063.4(GLRA2):c.1048C>T (p.Arg350Cys)	FANCB, GLRA2 (R261C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1686860	NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu)	FANCB, GLRA2 (R261L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GPathogenic
Select item 1339589	NM_002063.4(GLRA2):c.931-19G>C	FANCB, GLRA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334414	NM_002063.4(GLRA2):c.1199C>T (p.Pro400Leu)	FANCB, GLRA2 (P311L +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1334411	NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln)	FANCB, GLRA2 (R356Q +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1334406	NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr)	FANCB, GLRA2 (P307T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Pilorge type	GLikely pathogenic
Select item 1319367	NM_001018113.3(FANCB):c.164A>G (p.Lys55Arg)	FANCB (K55R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 780683	NM_002063.4(GLRA2):c.1089C>T (p.Asp363=)	FANCB, GLRA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 591622	NM_001018113.3(FANCB):c.-70-1G>C	FANCB	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 10867	FANCB, 3314-BP DEL	FANCB	Deletion	Fanconi anemia complementation group B	GPathogenic

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Links from Gene

Items: 30