C0033788[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554200	NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)	GNPTAB (K1236R)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 556345	NM_024312.5(GNPTAB):c.3694-1G>C	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 38429	NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)	GNPTAB (R1205*)	Single nucleotide variant (nonsense)	Mucolipidosis +3 more	GPathogenic
Select item 557839	NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)	GNPTAB (W1201*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 557433	NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)	GNPTAB (R1191C)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GConflicting classifications of pathogenicity
Select item 2764	NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)	GNPTAB (R1189*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 2771	NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	GNPTAB (L1168fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic
Select item 556677	NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp)	GNPTAB	Insertion (inframe_insertion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39074	NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)	GNPTAB (V1148fs)	Microsatellite (frameshift variant)	Mucolipidosis +3 more	GPathogenic
Select item 556490	NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup)	GNPTAB	Duplication (inframe_insertion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39071	NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)	GNPTAB (L1137*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2773	NM_024312.5(GNPTAB):c.3335+6T>G	GNPTAB	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 226419	NM_024312.5(GNPTAB):c.3250-2A>G	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 39065	NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)	GNPTAB (R1031*)	Single nucleotide variant (nonsense)	Pseudo-Hurler polydystrophy +2 more	GPathogenic
Select item 550844	NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)	GNPTAB (Q967R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 555725	NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del)	GNPTAB	Deletion (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 558573	NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del)	GNPTAB	Deletion (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39059	NM_024312.5(GNPTAB):c.2715+2T>G	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis +3 more	GPathogenic/Likely pathogenic
Select item 550986	NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del)	GNPTAB (L904del)	Microsatellite (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 552647	NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del)	GNPTAB (K898del)	Deletion (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39058	NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)	GNPTAB (K898fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552925	NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)	GNPTAB (T873fs)	Duplication (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 2769	NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)	GNPTAB (N859fs)	Microsatellite (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic
Select item 39055	NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)	GNPTAB (K850fs)	Microsatellite (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 39049	NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer)	GNPTAB	Deletion (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 38417	NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)	GNPTAB (S685fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 553877	NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val)	GNPTAB (A662V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 556333	NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del)	GNPTAB (L659del)	Microsatellite (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39041	NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)	GNPTAB (S654fs)	Microsatellite (frameshift variant)	GNPTAB-related disorder +3 more	GPathogenic
Select item 550573	NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys)	GNPTAB (E650K)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 550685	NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp)	GNPTAB (G648D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194265	NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)	GNPTAB (R636fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557689	NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu)	GNPTAB (F625L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 551203	NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)	GNPTAB (R587P)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GConflicting classifications of pathogenicity
Select item 39040	NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)	GNPTAB (R587*)	Single nucleotide variant (nonsense)	Mucolipidosis +2 more	GPathogenic
Select item 550806	NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del)	GNPTAB (I557del)	Microsatellite (inframe_deletion)	Mucolipidosis type II +1 more	GUncertain significance
Select item 551806	NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu)	GNPTAB (I557L)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 38414	NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)	GNPTAB (C528fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic
Select item 39034	NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)	GNPTAB (D467fs)	Deletion (frameshift variant)	Mucolipidosis +3 more	GPathogenic
Select item 554179	NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer)	GNPTAB	Deletion (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 551181	NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser)	GNPTAB (A455S)	Single nucleotide variant (missense variant)	Mucolipidosis type II +2 more	GUncertain significance
Select item 554325	NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg)	GNPTAB (K428R)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 39022	NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)	GNPTAB (R375*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 39021	NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)	GNPTAB (R364*)	Single nucleotide variant (nonsense)	Mucolipidosis +2 more	GPathogenic
Select item 550457	NM_024312.5(GNPTAB):c.1032del (p.Asn345fs)	GNPTAB (N345fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 556992	NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)	GNPTAB (P341fs)	Duplication (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 39017	NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)	GNPTAB (R334*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +2 more	GPathogenic/Likely pathogenic
Select item 554235	NM_024312.5(GNPTAB):c.933+1G>T	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 556444	NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer)	GNPTAB	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 552877	NM_024312.5(GNPTAB):c.771+2T>A	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 556944	NM_024312.5(GNPTAB):c.771+1G>C	GNPTAB	Single nucleotide variant (splice donor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 39086	NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)	GNPTAB (E217fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 38432	NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)	GNPTAB (T206fs)	Microsatellite (frameshift variant)	Mucolipidosis +3 more	GPathogenic
Select item 39079	NM_024312.5(GNPTAB):c.441del (p.Asn148fs)	GNPTAB (N148fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556987	NM_024312.5(GNPTAB):c.366-2A>G	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 39073	NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)	GNPTAB (T115fs)	Microsatellite (frameshift variant)	Mucolipidosis +3 more	GPathogenic
Select item 550053	NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)	GNPTAB (K113E)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GUncertain significance
Select item 556863	NM_024312.5(GNPTAB):c.204-1G>C	GNPTAB	Single nucleotide variant (splice acceptor variant)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 39031	NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)	GNPTAB (R46*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 496456	NM_024312.5(GNPTAB):c.99del (p.Ala34fs)	GNPTAB (A34fs)	Deletion (frameshift variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 553906	NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter)	GNPTAB (C13*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +1 more	GLikely pathogenic
Select item 2774	NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	GNPTAB (K4Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic

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Items: 62