B4GALT2[gene] - ClinVar

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Items: 46

	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 154514	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3	ARMH1, ARTN +88 more	Copy number gain	See cases	GUncertain significance
Select item 3132701	NM_003780.5(B4GALT2):c.-50C>G	B4GALT2 (P13R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132705	NM_003780.5(B4GALT2):c.-20G>T	B4GALT2 (G23V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3259441	NM_003780.5(B4GALT2):c.44C>T (p.Ala15Val)	B4GALT2 (A44V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132697	NM_003780.5(B4GALT2):c.49C>A (p.Leu17Ile)	B4GALT2 (L17I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542493	NM_003780.5(B4GALT2):c.82G>A (p.Val28Ile)	B4GALT2 (V57I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609849	NM_003780.5(B4GALT2):c.100G>A (p.Val34Ile)	B4GALT2 (V34I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517472	NM_003780.5(B4GALT2):c.130C>T (p.Arg44Cys)	B4GALT2 (R44C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298467	NM_003780.5(B4GALT2):c.131G>A (p.Arg44His)	B4GALT2 (R44H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132698	NM_003780.5(B4GALT2):c.143G>A (p.Arg48Gln)	B4GALT2 (R48Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379402	NM_003780.5(B4GALT2):c.191G>A (p.Ser64Asn)	B4GALT2 (S64N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211882	NM_003780.5(B4GALT2):c.205C>T (p.Arg69Trp)	B4GALT2 (R98W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132699	NM_003780.5(B4GALT2):c.206G>A (p.Arg69Gln)	B4GALT2 (R98Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245992	NM_003780.5(B4GALT2):c.211A>G (p.Asn71Asp)	B4GALT2 (N100D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255320	NM_003780.5(B4GALT2):c.224C>T (p.Ser75Phe)	B4GALT2 (S104F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381184	NM_003780.5(B4GALT2):c.232G>A (p.Gly78Arg)	B4GALT2 (G78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296684	NM_003780.5(B4GALT2):c.262G>T (p.Gly88Cys)	B4GALT2 (G88C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526046	NM_003780.5(B4GALT2):c.286C>T (p.Pro96Ser)	B4GALT2 (P96S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132702	NM_003780.5(B4GALT2):c.314T>C (p.Val105Ala)	B4GALT2 (V105A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207568	NM_003780.5(B4GALT2):c.419C>T (p.Thr140Ile)	B4GALT2 (T140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359542	NM_003780.5(B4GALT2):c.502A>G (p.Ile168Val)	B4GALT2 (I168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132703	NM_003780.5(B4GALT2):c.511C>T (p.Arg171Trp)	B4GALT2 (R171W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132704	NM_003780.5(B4GALT2):c.523C>T (p.Arg175Cys)	B4GALT2 (R175C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204211	NM_003780.5(B4GALT2):c.685C>T (p.Arg229Cys)	B4GALT2 (R229C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240225	NM_003780.5(B4GALT2):c.686G>A (p.Arg229His)	B4GALT2 (R258H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536675	NM_003780.5(B4GALT2):c.814C>T (p.Pro272Ser)	B4GALT2 (P272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459483	NM_003780.5(B4GALT2):c.1028G>A (p.Arg343Gln)	B4GALT2 (R343Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530036	NM_003780.5(B4GALT2):c.1057C>G (p.Pro353Ala)	B4GALT2 (P353A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132696	NM_003780.5(B4GALT2):c.1073T>C (p.Ile358Thr)	B4GALT2 (I387T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481848	NM_003780.5(B4GALT2):c.1100C>T (p.Ser367Leu)	B4GALT2 (S367L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247692	NC_000001.10:g.(?_44201934)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2425558	NC_000001.10:g.(?_44360035)_(44482805_?)dup	ARTN, ATP6V0B +6 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	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 1515804	NC_000001.10:g.(?_44360035)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 814068	GRCh37/hg19 1p34.1(chr1:44424878-45207102)x1	IPO13, ERI3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	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: 46