TRABD2B[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2220067	NM_001194986.2(TRABD2B):c.1268G>A (p.Arg423Gln)	TRABD2B (R423Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590585	NM_001194986.2(TRABD2B):c.1198G>A (p.Asp400Asn)	TRABD2B (D400N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277134	NM_001194986.2(TRABD2B):c.1162G>A (p.Glu388Lys)	TRABD2B (E388K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481832	NM_001194986.2(TRABD2B):c.1142C>T (p.Thr381Ile)	TRABD2B (T381I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551338	NM_001194986.2(TRABD2B):c.1091A>G (p.Gln364Arg)	TRABD2B (Q364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2359530	NM_001194986.2(TRABD2B):c.1012G>A (p.Val338Ile)	TRABD2B (V338I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481345	NM_001194986.2(TRABD2B):c.985G>A (p.Ala329Thr)	TRABD2B (A329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488721	NM_001194986.2(TRABD2B):c.496G>A (p.Val166Met)	TRABD2B (V166M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474063	NM_001194986.2(TRABD2B):c.433C>T (p.Leu145Phe)	TRABD2B (L145F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215260	NM_001194986.2(TRABD2B):c.424G>A (p.Gly142Ser)	TRABD2B (G142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638809	NM_001194986.2(TRABD2B):c.315C>T (p.His105=)	TRABD2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2379242	NM_001194986.2(TRABD2B):c.284C>T (p.Ser95Leu)	TRABD2B (S95L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611550	NM_001194986.2(TRABD2B):c.242G>A (p.Arg81His)	TRABD2B (R81H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2285130	NM_001194986.2(TRABD2B):c.149C>T (p.Pro50Leu)	TRABD2B (P50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514234	NM_001194986.2(TRABD2B):c.44C>T (p.Ala15Val)	TRABD2B (A15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329397	NM_001194986.2(TRABD2B):c.10G>T (p.Ala4Ser)	TRABD2B (A4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 980381	GRCh37/hg19 1p33(chr1:48289410-49433953)x3	AGBL4, SLC5A9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 24