BTBD19[gene] - ClinVar

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Items: 25

	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 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	LOC112590795, LOC122056854 +88 more	Copy number gain	See cases	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2603367	NM_001136537.3(BTBD19):c.49G>A (p.Ala17Thr)	BTBD19 (A17T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2624255	NM_001136537.3(BTBD19):c.100G>A (p.Val34Met)	BTBD19, LOC129930426 (V34M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205182	NM_001136537.3(BTBD19):c.197C>T (p.Pro66Leu)	BTBD19 (P66L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487073	NM_001136537.3(BTBD19):c.280G>T (p.Val94Phe)	BTBD19 (V94F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454879	NM_001136537.3(BTBD19):c.388G>A (p.Val130Met)	BTBD19 (V217M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310372	NM_001136537.3(BTBD19):c.467T>C (p.Ile156Thr)	BTBD19 (I243T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236249	NM_001136537.3(BTBD19):c.539T>C (p.Leu180Pro)	BTBD19 (L142P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556849	NM_001136537.3(BTBD19):c.559T>C (p.Cys187Arg)	BTBD19 (C152R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616273	NM_001136537.3(BTBD19):c.583C>T (p.Arg195Cys)	BTBD19 (R195C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323476	NM_001136537.3(BTBD19):c.598T>C (p.Trp200Arg)	BTBD19 (W200R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224515	NM_001136537.3(BTBD19):c.653C>T (p.Pro218Leu)	BTBD19 (P305L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510400	NM_001136537.3(BTBD19):c.685G>A (p.Ala229Thr)	BTBD19 (A194T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231025	NM_001136537.3(BTBD19):c.692C>T (p.Ala231Val)	BTBD19 (A252V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362844	NM_001136537.3(BTBD19):c.800G>A (p.Arg267Gln)	BTBD19 (R232Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327816	NM_001136537.3(BTBD19):c.818G>A (p.Arg273His)	BTBD19 (R294H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	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 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	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: 25