C0268273[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557535	NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)	GLB1	Single nucleotide variant (stop lost +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 558705	NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)	GLB1	Single nucleotide variant (intron variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 557185	NM_000404.4(GLB1):c.2011del (p.Asp671fs)	GLB1 (D641fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 551178	NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)	GLB1 (N538fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 550693	NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)	GLB1 (K668* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +5 more	GUncertain significance
Select item 551038	NM_000404.4(GLB1):c.1991del (p.Pro664fs)	GLB1 (P664fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 555675	NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)	GLB1 (R660* +3 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 550288	NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)	GLB1 (R595W +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +7 more	GUncertain significance
Select item 948	NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	GLB1 (Y591C +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 551476	NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)	GLB1 (R590S +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +4 more	GConflicting classifications of pathogenicity
Select item 557709	NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	GLB1 (W582* +3 more)	Single nucleotide variant (nonsense +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 252985	NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	GLB1 (K578R +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +6 more	GPathogenic/Likely pathogenic
Select item 556285	NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)	GLB1 (Q572* +3 more)	Single nucleotide variant (nonsense)	Infantile GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 550413	NM_000404.4(GLB1):c.1634dup (p.Asn545fs)	GLB1 (N593fs +3 more)	Duplication (frameshift variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 552455	NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)	GLB1 (E537* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 555117	NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)	GLB1 (N474fs +3 more)	Insertion (frameshift variant)	Infantile GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 552879	NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)	GLB1 (L471fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 942	NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)	GLB1 (T500A +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 550166	NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)	GLB1 (G494V +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 557669	NM_000404.4(GLB1):c.1479+1G>A	GLB1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 558272	NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	GLB1 (D491N +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 92898	NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)	GLB1 (I459fs +3 more)	Duplication (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 555363	NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	GLB1 (Y485C +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 553506	NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	GLB1 (N484K +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GConflicting classifications of pathogenicity
Select item 932	NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	GLB1 (R482H +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 938	NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	GLB1 (R482C +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 553636	NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	GLB1 (M480V +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 924	NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	GLB1 (R457* +3 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 528328	NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	GLB1 (R442Q +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 551496	NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	GLB1 (D441N +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GPathogenic/Likely pathogenic
Select item 554101	NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	GLB1 (N437S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +5 more	GConflicting classifications of pathogenicity
Select item 92896	NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)	GLB1 (N437I +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +5 more	GConflicting classifications of pathogenicity
Select item 92895	NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	GLB1 (L436F +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +6 more	GBenign/Likely benign
Select item 242561	NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	GLB1 (P429S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +5 more	GConflicting classifications of pathogenicity
Select item 556286	NM_000404.4(GLB1):c.1233+1G>A	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 943	NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)	GLB1 (Q408P +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +3 more	GUncertain significance
Select item 92893	NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)	GLB1 (L362fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 557226	NM_000404.4(GLB1):c.1144-2A>G	GLB1	Single nucleotide variant (splice acceptor variant)	Infantile GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 941	NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	GLB1 (R351* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis +6 more	GPathogenic
Select item 558213	NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)	GLB1 (K346N +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 550856	NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)	GLB1 (K346N +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 556658	NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	GLB1 (Y324C +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 929	NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)	GLB1 (Y316C +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +3 more	GLikely pathogenic
Select item 256027	NM_000404.4(GLB1):c.858C>T (p.Thr286=)	GLB1	Single nucleotide variant (synonymous variant)	Infantile GM1 gangliosidosis +6 more	GLikely benign
Select item 557052	NM_000404.4(GLB1):c.846del (p.Thr283fs)	GLB1 (T152fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis +4 more	GPathogenic
Select item 284172	NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	GLB1 (Y270D +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +6 more	GPathogenic/Likely pathogenic
Select item 555028	NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)	GLB1 (N266S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 556646	NM_000404.4(GLB1):c.769_792+13del	GLB1	Deletion (splice donor variant)	Infantile GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 554850	NM_000404.4(GLB1):c.765G>C (p.Gln255His)	GLB1 (Q255H +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +4 more	GLikely pathogenic
Select item 92912	NM_000404.4(GLB1):c.734-8A>G	GLB1	Single nucleotide variant (intron variant)	not specified +5 more	GUncertain significance
Select item 557859	NM_000404.4(GLB1):c.733+2_733+4del	GLB1	Deletion (splice donor variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 553125	NM_000404.4(GLB1):c.733+1G>A	GLB1	Single nucleotide variant (splice donor variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic
Select item 552535	NM_000404.4(GLB1):c.694dup (p.Ala232fs)	GLB1 (A280fs +2 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +4 more	GPathogenic/Likely pathogenic
Select item 554283	NM_000404.4(GLB1):c.645_648del (p.Val216fs)	GLB1 (V186fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 557667	NM_000404.4(GLB1):c.626del (p.His209fs)	GLB1 (H209fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 939	NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	GLB1 (R208C +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +3 more	GPathogenic
Select item 198077	NM_000404.4(GLB1):c.602G>A (p.Arg201His)	GLB1 (R201H +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic
Select item 925	NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	GLB1 (R201C +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 549962	NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)	GLB1 (S191N +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 553673	NM_000404.4(GLB1):c.552+2T>C	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis type 2 +4 more	GLikely pathogenic
Select item 551241	NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)	GLB1 (S104L +3 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 556506	NM_000404.4(GLB1):c.501C>T (p.Pro167=)	GLB1 (Q97*)	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 92910	NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	GLB1 (W161G +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 265179	NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	GLB1 (L155R +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic
Select item 553205	NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	GLB1 (S149F +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +2 more	GPathogenic
Select item 551757	NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	GLB1 (R148S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 92907	NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	GLB1 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 550513	NM_000404.4(GLB1):c.433_437del (p.Ile145fs)	GLB1 (I115fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 558711	NM_000404.4(GLB1):c.425_426del (p.Lys142fs)	GLB1 (K142fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 556153	NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	GLB1 (G134V +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 92906	NM_000404.4(GLB1):c.397-1G>A	GLB1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 556862	NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	GLB1 (M132T +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +3 more	GConflicting classifications of pathogenicity
Select item 555030	NM_000404.4(GLB1):c.335A>C (p.His112Pro)	GLB1 (H112P +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 557540	NM_000404.4(GLB1):c.302del (p.Asp101fs)	GLB1 (D149fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 264673	NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	GLB1 (W92* +2 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 3 +5 more	GPathogenic
Select item 555286	NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	GLB1 (Y83C +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 554728	NM_000404.4(GLB1):c.245+1G>C	GLB1	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GPathogenic/Likely pathogenic
Select item 417873	NM_000404.4(GLB1):c.245+1G>A	GLB1	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic
Select item 935	NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	GLB1 (T82M +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 3 +6 more	GPathogenic/Likely pathogenic
Select item 195074	NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	GLB1 (R68Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558551	NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)	GLB1 (F63Y +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 945	NM_000404.4(GLB1):c.176G>A (p.Arg59His)	GLB1 (R59H +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 3 +7 more	GPathogenic/Likely pathogenic
Select item 496895	NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	GLB1 (R59C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 92900	NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	GLB1 (Y57* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic
Select item 554550	NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	GLB1 (I51N +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GConflicting classifications of pathogenicity
Select item 926	NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)	GLB1 (I51T +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic
Select item 521991	NM_000404.4(GLB1):c.146G>A (p.Arg49His)	GLB1 (R49H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 923	NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	GLB1 (R49C +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 551262	NM_000404.4(GLB1):c.93G>A (p.Met31Ile)	GLB1 (M31I +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +3 more	GUncertain significance
Select item 555329	NM_000404.4(GLB1):c.65_75+1del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic

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