"GeneDx"[submitter] AND "ALG12"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 342034	NM_024105.4(ALG12):c.*280G>A	ALG12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 342036	NM_024105.4(ALG12):c.*240G>A	ALG12	Single nucleotide variant (3 prime UTR variant)	ALG12-congenital disorder of glycosylation +1 more	GBenign
Select item 342038	NM_024105.4(ALG12):c.*51A>G	ALG12	Single nucleotide variant (3 prime UTR variant)	ALG12-congenital disorder of glycosylation +1 more	GBenign
Select item 1348932	NM_024105.4(ALG12):c.1456del (p.Arg486fs)	ALG12 (R486fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1312966	NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys)	ALG12 (Y444C)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1809890	NM_024105.4(ALG12):c.1298T>A (p.Leu433His)	ALG12 (L433H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96095	NM_024105.4(ALG12):c.1177A>G (p.Ile393Val)	ALG12 (I393V)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +2 more	GBenign
Select item 342045	NM_024105.4(ALG12):c.1029G>A (p.Ala343=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation +1 more	GBenign
Select item 242854	NM_024105.4(ALG12):c.1001del (p.Asn334fs)	ALG12 (N334fs)	Deletion (frameshift variant)	ALG12-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 1181258	NM_024105.4(ALG12):c.992+191G>A	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292204	NM_024105.4(ALG12):c.992+118G>A	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377465	NM_024105.4(ALG12):c.931C>T (p.Arg311Cys)	ALG12 (R311C)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 96102	NM_024105.4(ALG12):c.885A>G (p.Ala295=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation +2 more	GBenign
Select item 383965	NM_024105.4(ALG12):c.818G>A (p.Gly273Asp)	ALG12 (G273D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292205	NM_024105.4(ALG12):c.769-72A>G	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262334	NM_024105.4(ALG12):c.768+343T>C	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251099	NM_024105.4(ALG12):c.768+275_768+276dup	ALG12	Duplication (intron variant)	not provided	GBenign
Select item 1226395	NM_024105.4(ALG12):c.768+275dup	ALG12	Duplication (intron variant)	not provided	GBenign
Select item 1243459	NM_024105.4(ALG12):c.768+263C>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281745	NM_024105.4(ALG12):c.768+221A>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261688	NM_024105.4(ALG12):c.768+42T>C	ALG12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1698031	NM_024105.4(ALG12):c.687_688del (p.Tyr230fs)	ALG12 (Y230fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1225727	NM_024105.4(ALG12):c.665-29G>A	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183449	NM_024105.4(ALG12):c.665-93C>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226475	NM_024105.4(ALG12):c.665-154C>G	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229359	NM_024105.4(ALG12):c.665-254C>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261687	NM_024105.4(ALG12):c.664+27T>G	ALG12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 96097	NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)	ALG12 (R211C)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 3364900	NM_024105.4(ALG12):c.538ATC[1] (p.Ile181del)	ALG12 (I181del)	Microsatellite (inframe_indel)	not provided	GUncertain significance
Select item 1195400	NM_024105.4(ALG12):c.535G>A (p.Ala179Thr)	ALG12 (A179T)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1249610	NM_024105.4(ALG12):c.469+92G>A	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261686	NM_024105.4(ALG12):c.469+13C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 3436	NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)	ALG12 (G101R)	Single nucleotide variant (missense variant)	ALG12-related disorder +2 more	GLikely pathogenic
Select item 1292560	NM_024105.4(ALG12):c.296-109C>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265157	NM_024105.4(ALG12):c.295+292C>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265622	NM_024105.4(ALG12):c.295+93G>A	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292206	NM_024105.4(ALG12):c.295+64C>T	ALG12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 862150	NM_024105.4(ALG12):c.295+1G>A	ALG12	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 96096	NM_024105.4(ALG12):c.163-19C>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation +2 more	GBenign
Select item 1243846	NM_024105.4(ALG12):c.162+22del	ALG12	Deletion (intron variant)	not provided	GBenign
Select item 372630	NM_024105.4(ALG12):c.162+1G>T	ALG12	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 242855	NM_024105.4(ALG12):c.117del (p.Gln40fs)	ALG12 (Q40fs)	Deletion (frameshift variant)	ALG12-congenital disorder of glycosylation +1 more	GPathogenic
Select item 342060	NM_024105.4(ALG12):c.99G>A (p.Val33=)	ALG12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253336	GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1	BRD1, TTC38 +18 more	Copy number loss	See cases	GLikely pathogenic

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Items: 50