C0002066[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188735	NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)	HGD	Single nucleotide variant (stop lost)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 371502	NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	HGD (E401Q)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 370979	NM_000187.4(HGD):c.1188+1G>T	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 550232	NM_000187.4(HGD):c.1120G>C (p.Asp374His)	HGD (D374H)	Single nucleotide variant (missense variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 65573	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD (H371fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 554865	NM_000187.4(HGD):c.1106C>A (p.Thr369Asn)	HGD (T369N)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 3173	NM_000187.4(HGD):c.1102A>G (p.Met368Val)	HGD (M368V)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic
Select item 550415	NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)	HGD (G361R)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 370890	NM_000187.4(HGD):c.1064dup (p.Gly356fs)	HGD (G356fs)	Duplication (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 371197	NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)	HGD (M339fs)	Indel (frameshift variant)	HGD-related disorder +1 more	GPathogenic
Select item 371566	NM_000187.4(HGD):c.970dup (p.Val324fs)	HGD (V324fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 371206	NM_000187.4(HGD):c.956del (p.Pro319fs)	HGD (P319fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 3166	NM_000187.4(HGD):c.899T>G (p.Val300Gly)	HGD (V300G)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 556131	NM_000187.4(HGD):c.879+1G>A	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GLikely pathogenic
Select item 3175	NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	HGD (G270R)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 371624	NM_000187.4(HGD):c.781dup (p.Ser261fs)	HGD (S261fs)	Duplication (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 3165	NM_000187.4(HGD):c.688C>T (p.Pro230Ser)	HGD (P230S)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 189173	NM_000187.4(HGD):c.674G>A (p.Arg225His)	HGD (R225H)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 189061	NM_000187.4(HGD):c.652del	HGD	Deletion (splice acceptor variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 370198	NM_000187.4(HGD):c.649+2T>C	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GLikely pathogenic
Select item 556003	NM_000187.4(HGD):c.559C>G (p.Arg187Gly)	HGD (R187G)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 3168	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	HGD (G161R)	Single nucleotide variant (missense variant)	Alkaptonuria +1 more	GPathogenic
Select item 553516	NM_000187.4(HGD):c.473C>T (p.Pro158Leu)	HGD (P158L)	Single nucleotide variant (missense variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 3169	NM_000187.4(HGD):c.457dup (p.Asp153fs)	HGD (D153fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 550079	NM_000187.4(HGD):c.455G>C (p.Gly152Ala)	HGD (G152A)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 370989	NM_000187.4(HGD):c.409del (p.Leu137fs)	HGD (L137fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 370253	NM_000187.4(HGD):c.390del (p.Ala132fs)	HGD (A132fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 371063	NM_000187.4(HGD):c.376_377del (p.Lys126fs)	HGD (K126fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 188865	NM_000187.4(HGD):c.365C>T (p.Ala122Val)	HGD (A122V)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 65578	NM_000187.4(HGD):c.360T>G (p.Cys120Trp)	HGD (C120W)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 554869	NM_000187.4(HGD):c.347T>C (p.Leu116Pro)	HGD (L116P)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 370977	NM_000187.4(HGD):c.346del (p.Leu116fs)	HGD (L116fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 370654	NM_000187.4(HGD):c.339_342+2del	HGD	Deletion (splice donor variant)	Alkaptonuria	GLikely pathogenic
Select item 189127	NM_000187.4(HGD):c.342+1G>T	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 65577	NM_000187.4(HGD):c.342+1G>A	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GLikely pathogenic
Select item 370411	NM_000187.4(HGD):c.179G>A (p.Trp60Ter)	HGD (W60*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 371563	NM_000187.4(HGD):c.177-1G>A	HGD	Single nucleotide variant (splice acceptor variant)	Alkaptonuria	GLikely pathogenic
Select item 3171	NM_000187.4(HGD):c.175del (p.Ser59fs)	HGD (S59fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 370939	NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	HGD (R53Q)	Single nucleotide variant (missense variant)	Alkaptonuria +1 more	GPathogenic/Likely pathogenic
Select item 370893	NM_000187.4(HGD):c.58del (p.Arg20fs)	HGD (R20fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 370267	NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)	HGD (G11fs)	Indel (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 3170	NM_000187.4(HGD):c.16-1G>A	HGD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 370545	NM_000187.4(HGD):c.15+1G>A	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GLikely pathogenic
Select item 188717	NM_000187.4(HGD):c.11T>A (p.Leu4Ter)	HGD (L4*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 555702	NM_000187.4(HGD):c.8A>C (p.Glu3Ala)	HGD (E3A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 370258	NM_000187.4(HGD):c.3G>C (p.Met1Ile)	HGD (M1I)	Single nucleotide variant (missense variant +1 more)	Alkaptonuria	GPathogenic/Likely pathogenic

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Items: 46