ClinVar for MedGen (Select 6453) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391404	NM_000203.5(IDUA):c.1853_1855del (p.Tyr618_Arg619delinsTer)	IDUA	Deletion (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-S	GLikely pathogenic
Select item 3391403	NM_000203.5(IDUA):c.723C>A (p.Cys241Ter)	IDUA (C109* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-S	GLikely pathogenic
Select item 3382468	NM_000203.5(IDUA):c.159-9T>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3382137	NM_000203.5(IDUA):c.792G>A (p.Lys264=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 3376497	NM_000203.5(IDUA):c.1655C>T (p.Thr552Met)	IDUA (T420M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 2506987	NM_000203.5(IDUA):c.34_46del (p.Ala12fs)	IDUA, SLC26A1 (A12fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-I-S	GPathogenic
Select item 1440837	NM_000203.5(IDUA):c.90C>G (p.His30Gln)	SLC26A1, IDUA (H30Q)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +3 more	GUncertain significance
Select item 1438371	NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)	IDUA, SLC26A1 (R38C)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +4 more	GUncertain significance
Select item 1430547	NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)	IDUA (N68K +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +3 more	GUncertain significance
Select item 1349690	NM_000203.5(IDUA):c.340C>A (p.Leu114Met)	IDUA (L114M)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GUncertain significance
Select item 1185530	NM_000203.5(IDUA):c.299+3990A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1185222	NM_000203.5(IDUA):c.1727+72T>G	IDUA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 971486	NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)	IDUA (G165D +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +5 more	GUncertain significance
Select item 956890	NM_000203.5(IDUA):c.784del (p.His262fs)	IDUA (H262fs +1 more)	Deletion (frameshift variant +1 more)	Hurler syndrome +4 more	GConflicting classifications of pathogenicity
Select item 928997	NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	IDUA (W494* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GPathogenic
Select item 904673	NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)	IDUA (A292T +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +3 more	GUncertain significance
Select item 863830	NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)	IDUA	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GPathogenic/Likely pathogenic
Select item 856833	NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)	IDUA (S423R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 851683	NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)	IDUA (P361R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 635306	NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)	IDUA (N350S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S	GUncertain significance
Select item 580286	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	IDUA, SLC26A1 (R89W)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 556504	NM_000203.5(IDUA):c.1190-2A>T	IDUA	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 1 +3 more	GLikely pathogenic
Select item 556406	NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	IDUA (S633L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +3 more	GPathogenic
Select item 554280	NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)	IDUA, SLC26A1 (F52L)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +2 more	GUncertain significance
Select item 456719	NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	IDUA (S234T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GConflicting classifications of pathogenicity
Select item 444626	NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	IDUA (R621G +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significanceFDA Recognized database
Select item 350186	NM_000203.5(IDUA):c.-71C>T	SLC26A1, IDUA	Single nucleotide variant (genic upstream transcript variant +2 more)	Mucopolysaccharidosis type 1 +3 more	GUncertain significance
Select item 255530	NM_000203.5(IDUA):c.973-45G>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 255529	NM_000203.5(IDUA):c.972+48A>G	IDUA	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 255528	NM_000203.5(IDUA):c.590-45G>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 255522	NM_000203.5(IDUA):c.1402+36T>C	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 222996	NM_000203.5(IDUA):c.590-7G>A	IDUA	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 222995	NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	IDUA (L218P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
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 167191	NM_000203.5(IDUA):c.1614del (p.His539fs)	IDUA (H539fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-I-S +4 more	GPathogenic
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 92650	NM_000203.5(IDUA):c.942G>C (p.Ala314=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-I-S +5 more	GBenign
Select item 92649	NM_000203.5(IDUA):c.891C>T (p.Asn297=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1 +6 more	GBenign/Likely benign
Select item 92646	NM_000203.5(IDUA):c.590-8C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GBenignFDA Recognized database
Select item 92645	NM_000203.5(IDUA):c.543T>C (p.Asn181=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S +5 more	GBenign
Select item 92643	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	SLC26A1, IDUA	Deletion (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 1	GPathogenicFDA Recognized database
Select item 92642	NM_000203.5(IDUA):c.352C>T (p.Leu118=)	IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GBenignFDA Recognized database
Select item 92641	NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	IDUA (R105Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1	GBenignFDA Recognized database
Select item 92630	NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)	IDUA (V454I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GBenignFDA Recognized database
Select item 11918	NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)	IDUA (R492P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GLikely pathogenic
Select item 11917	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	IDUA (R621* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-S +4 more	GPathogenic
Select item 11910	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	IDUA (P533R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-S +5 more	GPathogenic
Select item 11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	IDUA, SLC26A1 (Q70*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis, MPS-I-H/S +7 more	GPathogenic
Select item 11908	NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	IDUA (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-I-H/S +6 more	GPathogenic

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Items: 49