SVBP[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 2289232	NM_199342.4(SVBP):c.159G>C (p.Gln53His)	SVBP (Q53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616889	NM_199342.4(SVBP):c.155A>G (p.Gln52Arg)	SVBP (Q52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500213	NM_199342.4(SVBP):c.146T>C (p.Leu49Pro)	SVBP (L49P)	Single nucleotide variant (missense variant)	SVBP-related disorder	GLikely pathogenic
Select item 1334972	NM_199342.4(SVBP):c.105_106del (p.Arg36fs)	SVBP (R36fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3323728	NM_199342.4(SVBP):c.104A>G (p.Gln35Arg)	SVBP (Q35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361482	NM_199342.4(SVBP):c.95A>G (p.Lys32Arg)	SVBP (K32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361481	NM_199342.4(SVBP):c.91C>G (p.Leu31Val)	SVBP (L31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 635968	NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)	SVBP (Q28*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with ataxia +4 more	GPathogenic/Likely pathogenic
Select item 635969	NM_199342.4(SVBP):c.39_42del (p.Lys13fs)	SVBP (K13fs)	Deletion (frameshift variant)	Microcephaly +2 more	GPathogenic
Select item 806113	NM_199342.4(SVBP):c.28dup (p.Thr10fs)	SVBP (T10fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2621787	NM_199342.4(SVBP):c.28A>G (p.Thr10Ala)	SVBP (T10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3247800	NC_000001.10:g.(?_42922237)_(43424429_?)dup	C1orf50, CCDC30 +9 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3247799	NC_000001.10:g.(?_43200757)_(43424429_?)del	C1orf50, CLDN19 +5 more	Deletion	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 26