C0023786[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2866981	NM_000203.5(IDUA):c.-23_18del (p.Met1fs)	IDUA, SLC26A1 (M1fs)	Deletion (frameshift variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1926190	NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)	IDUA, SLC26A1	Deletion (inframe_deletion +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1323098	NM_000203.5(IDUA):c.1A>G (p.Met1Val)	IDUA, SLC26A1 (M1V)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1	GPathogenicFDA Recognized database
Select item 550458	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	IDUA, SLC26A1 (M1L)	Single nucleotide variant (missense variant +3 more)	Hurler syndrome +1 more	GPathogenic
Select item 639529	NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	IDUA, SLC26A1 (M1T)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1 +3 more	GPathogenic
Select item 1952762	NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)	IDUA, SLC26A1 (R2P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2744372	NM_000203.5(IDUA):c.6T>C (p.Arg2=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2144212	NM_000203.5(IDUA):c.8C>A (p.Pro3His)	IDUA, SLC26A1 (P3H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2108130	NM_000203.5(IDUA):c.9C>T (p.Pro3=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1581834	NM_000203.5(IDUA):c.10C>T (p.Leu4=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 526832	NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	IDUA, SLC26A1 (L4P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2021616	NM_000203.5(IDUA):c.19dup (p.Arg7fs)	IDUA, SLC26A1 (R7fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2789152	NM_000203.5(IDUA):c.15C>G (p.Arg5=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2079488	NM_000203.5(IDUA):c.15C>A (p.Arg5=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1534004	NM_000203.5(IDUA):c.15C>T (p.Arg5=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1648461	NM_000203.5(IDUA):c.18C>T (p.Pro6=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1133318	NM_000203.5(IDUA):c.21C>A (p.Arg7=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 848266	NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)	IDUA, SLC26A1 (A8S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 92638	NM_000203.5(IDUA):c.24C>A (p.Ala8=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 2167741	NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)	IDUA, SLC26A1 (A9M)	Indel (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 939161	NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)	IDUA, SLC26A1 (A9G)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2698843	NM_000203.5(IDUA):c.27G>A (p.Ala9=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2061505	NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)	IDUA, SLC26A1	Duplication (inframe_insertion +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 719033	NM_000203.5(IDUA):c.30G>A (p.Leu10=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GConflicting classifications of pathogenicity
Select item 1390259	NM_000203.5(IDUA):c.31C>G (p.Leu11Val)	IDUA, SLC26A1 (L11V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2762335	NM_000203.5(IDUA):c.33G>T (p.Leu11=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2169787	NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)	IDUA, SLC26A1	Duplication (inframe_insertion +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 92643	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	IDUA, SLC26A1	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis type 1	GPathogenicFDA Recognized database
Select item 2826754	NM_000203.5(IDUA):c.36G>T (p.Ala12=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1109615	NM_000203.5(IDUA):c.36G>C (p.Ala12=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1135914	NM_000203.5(IDUA):c.39C>T (p.Leu13=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 745113	NM_000203.5(IDUA):c.42G>C (p.Leu14=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2841975	NM_000203.5(IDUA):c.45C>G (p.Ala15=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1427062	NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)	IDUA, SLC26A1 (S16*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1651325	NM_000203.5(IDUA):c.48G>C (p.Ser16=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1077851	NM_000203.5(IDUA):c.52C>T (p.Leu18=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 193062	NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	SLC26A1, IDUA (L18P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2002003	NM_000203.5(IDUA):c.54G>A (p.Leu18=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2155763	NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)	IDUA, SLC26A1 (P21S)	Indel (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 553915	NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)	IDUA, SLC26A1 (P22fs)	Indel (frameshift variant +2 more)	Hurler syndrome +1 more	GPathogenic/Likely pathogenic
Select item 92647	NM_000203.5(IDUA):c.60G>A (p.Ala20=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GBenignFDA Recognized database
Select item 2171308	NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)	IDUA, SLC26A1 (P21T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 1568681	NM_000203.5(IDUA):c.63C>A (p.Pro21=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1000369	NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)	IDUA, SLC26A1 (P22A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 658528	NM_000203.5(IDUA):c.65C>T (p.Pro22Leu)	IDUA, SLC26A1 (P22L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2810459	NM_000203.5(IDUA):c.72C>G (p.Ala24=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1017452	NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)	IDUA, SLC26A1 (P25S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2145059	NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)	IDUA, SLC26A1 (P25L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 712785	NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	IDUA, SLC26A1 (A26T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2793182	NM_000203.5(IDUA):c.78C>T (p.Ala26=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2757924	NM_000203.5(IDUA):c.78C>G (p.Ala26=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2152691	NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)	IDUA, SLC26A1 (P29R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1072941	NM_000203.5(IDUA):c.87del (p.His30fs)	SLC26A1, IDUA (H30fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1440837	NM_000203.5(IDUA):c.90C>G (p.His30Gln)	IDUA, SLC26A1 (H30Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +3 more	GUncertain significance
Select item 1081249	NM_000203.5(IDUA):c.91C>T (p.Leu31=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2021652	NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)	IDUA, SLC26A1 (H33fs)	Insertion (frameshift variant +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1545073	NM_000203.5(IDUA):c.93G>A (p.Leu31=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1523670	NM_000203.5(IDUA):c.94G>T (p.Val32Leu)	IDUA, SLC26A1 (V32L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 1135222	NM_000203.5(IDUA):c.96G>T (p.Val32=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2134405	NM_000203.5(IDUA):c.99T>A (p.His33Gln)	SLC26A1, IDUA (H33Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GBenign
Select item 92651	NM_000203.5(IDUA):c.99T>G (p.His33Gln)	IDUA, SLC26A1 (H33Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GBenignFDA Recognized database
Select item 2087548	NM_000203.5(IDUA):c.108G>C (p.Ala36=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1438371	NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)	IDUA, SLC26A1 (R38C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +4 more	GUncertain significance
Select item 2734632	NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)	IDUA, SLC26A1 (W41*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1080075	NM_000203.5(IDUA):c.127C>T (p.Leu43=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1457071	NM_000203.5(IDUA):c.132del (p.Arg45fs)	IDUA, SLC26A1 (R45fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1643780	NM_000203.5(IDUA):c.132G>A (p.Arg44=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1412970	NM_000203.5(IDUA):c.134G>C (p.Arg45Pro)	IDUA, SLC26A1 (R45P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2818372	NM_000203.5(IDUA):c.135C>T (p.Arg45=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1092748	NM_000203.5(IDUA):c.138C>T (p.Phe46=)	SLC26A1, IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1518010	NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del)	IDUA, SLC26A1 (R48del)	Microsatellite (inframe_deletion +2 more)	Mucopolysaccharidosis type 1	GLikely pathogenic
Select item 938186	NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)	SLC26A1, IDUA (W47*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1480323	NM_000203.5(IDUA):c.142A>G (p.Arg48Gly)	IDUA, SLC26A1 (R48G)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2148423	NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)	IDUA, SLC26A1 (R48K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 1569998	NM_000203.5(IDUA):c.147C>T (p.Ser49=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1660017	NM_000203.5(IDUA):c.150A>G (p.Thr50=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 193061	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	IDUA, SLC26A1 (G51D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GPathogenicFDA Recognized database
Select item 2689242	NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)	IDUA, SLC26A1 (C53S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 526835	NM_000203.5(IDUA):c.158+1G>A	IDUA, SLC26A1	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 1099120	NM_000203.5(IDUA):c.158+7G>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1151696	NM_000203.5(IDUA):c.158+8C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1953078	NM_000203.5(IDUA):c.158+9T>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1577709	NM_000203.5(IDUA):c.158+9T>A	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2196332	NM_000203.5(IDUA):c.158+11C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2898082	NM_000203.5(IDUA):c.158+12G>A	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2777817	NM_000203.5(IDUA):c.158+13C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2973374	NM_000203.5(IDUA):c.158+16C>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2796989	NM_000203.5(IDUA):c.158+16C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2782940	NM_000203.5(IDUA):c.158+18T>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 92633	NM_000203.5(IDUA):c.159-19_160del	IDUA, SLC26A1	Deletion (3 prime UTR variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2914028	NM_000203.5(IDUA):c.159-20C>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2160754	NM_000203.5(IDUA):c.159-20C>T	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1590503	NM_000203.5(IDUA):c.159-19G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2908456	NM_000203.5(IDUA):c.159-18C>T	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2413566	NM_000203.5(IDUA):c.159-17C>T	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1970043	NM_000203.5(IDUA):c.159-9T>C	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1090741	NM_000203.5(IDUA):c.159-8G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1141071	NM_000203.5(IDUA):c.159-6C>T	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 1067858	NM_000203.5(IDUA):c.159-2A>G	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +2 more)	Mucopolysaccharidosis type 1	GLikely pathogenic
Select item 1067327	NM_000203.5(IDUA):c.159-2A>C	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +2 more)	Mucopolysaccharidosis type 1	GLikely pathogenic

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