C2930997[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554144	NM_013339.4(ALG6):c.1A>G (p.Met1Val)	ALG6 (M1V)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 558047	NM_013339.4(ALG6):c.2T>C (p.Met1Thr)	ALG6 (M1T)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 555747	NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	ALG6 (R18*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 552732	NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)	ALG6 (R18Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 555062	NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)	ALG6 (L23fs)	Insertion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 558193	NM_013339.4(ALG6):c.82_82+8del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 297845	NM_013339.4(ALG6):c.156G>A (p.Pro52=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 557002	NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	ALG6 (Y57*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553295	NM_013339.4(ALG6):c.189_191del (p.Asn64del)	ALG6 (N64del)	Deletion (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 556815	NM_013339.4(ALG6):c.235_237del (p.His79del)	ALG6 (H79del)	Deletion (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 556498	NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	ALG6 (A84T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 550168	NM_013339.4(ALG6):c.257+2dup	ALG6	Duplication (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 551854	NM_013339.4(ALG6):c.338G>A (p.Arg113His)	ALG6 (R113H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 553556	NM_013339.4(ALG6):c.429+1G>T	ALG6	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 558221	NM_013339.4(ALG6):c.430-2A>G	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 556770	NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])	ALG6	Deletion (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 552253	NM_013339.4(ALG6):c.495-2A>G	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 297849	NM_013339.4(ALG6):c.495A>G (p.Gln165=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 556039	NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)	ALG6 (F250fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 552109	NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)	ALG6 (R262del)	Microsatellite (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 374388	NM_013339.4(ALG6):c.988G>T (p.Val330Phe)	ALG6 (V330F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 5497	NM_013339.4(ALG6):c.998C>T (p.Ala333Val)	ALG6 (A333V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GPathogenic
Select item 553967	NM_013339.4(ALG6):c.1128-2A>C	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 555579	NM_013339.4(ALG6):c.1136del (p.Pro379fs)	ALG6 (P379fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 128350	NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)	ALG6 (P379S)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GUncertain significance
Select item 552130	NM_013339.4(ALG6):c.1167del (p.Ser390fs)	ALG6 (S390fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 551075	NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	ALG6 (I399fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 550138	NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)	ALG6	Deletion (inframe_indel)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 552249	NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)	ALG6 (F398fs)	Indel (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 552476	NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)	ALG6 (E415del)	Microsatellite (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 551929	NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del)	ALG6 (M456del)	Microsatellite (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 555103	NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	ALG6 (P463fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 555315	NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	ALG6 (Q464*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 552110	NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)	ALG6 (P467fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 556311	NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)	ALG6	Deletion (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 555299	NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup)	ALG6	Microsatellite (inframe_insertion)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 551272	NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)	ALG6	Deletion (frameshift variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance

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Items: 37