ClinVar for MedGen (Select 44171) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233764	NM_003719.5(PDE8B):c.895G>T (p.Glu299Ter)	PDE8B (E175* +8 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 3022938	NM_000203.5(IDUA):c.1190-15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3021845	NM_000203.5(IDUA):c.1829-14C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3021544	NM_000203.5(IDUA):c.1190-14C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3020655	NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)	IDUA (E123*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 3019301	NM_000203.5(IDUA):c.973-17G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3018089	NM_000203.5(IDUA):c.589+7A>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3017614	NM_000203.5(IDUA):c.1587G>C (p.Ala529=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3015937	NM_000203.5(IDUA):c.1062C>T (p.Ser354=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3014778	NM_000203.5(IDUA):c.1190-18C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3014777	NM_000203.5(IDUA):c.1190-19G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3013208	NM_000203.5(IDUA):c.1524+19G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3012659	NM_000203.5(IDUA):c.385+15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3009717	NM_000203.5(IDUA):c.1080C>T (p.Phe360=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3009193	NM_000203.5(IDUA):c.774C>T (p.Tyr258=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3004092	NM_000203.5(IDUA):c.972+7C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3001625	NM_000203.5(IDUA):c.1525-20G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 3000334	NM_000203.5(IDUA):c.1189+14G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2999505	NM_000203.5(IDUA):c.1584C>G (p.Pro528=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2998758	NM_000203.5(IDUA):c.1407G>T (p.Leu469=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2998207	NM_000203.5(IDUA):c.1125C>T (p.Arg375=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2997543	NM_000203.5(IDUA):c.1190-13C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2995688	NM_000203.5(IDUA):c.973-15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2991888	NM_000203.5(IDUA):c.590-8dup	IDUA	Duplication (intron variant)	Mucopolysaccharidosis type 1	GBenign
Select item 2988325	NM_000203.5(IDUA):c.866del (p.Lys289fs)	IDUA (K289fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2987186	NM_000203.5(IDUA):c.1190-13C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2986523	NM_000203.5(IDUA):c.1692G>T (p.Leu564=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2981845	NM_000203.5(IDUA):c.1077C>G (p.Pro359=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2979956	NM_000203.5(IDUA):c.589+20dup	IDUA	Duplication (intron variant)	Mucopolysaccharidosis type 1	GBenign
Select item 2979954	NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)	IDUA (G347R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2979894	NM_000203.5(IDUA):c.1651-14C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2975586	NM_000203.5(IDUA):c.1651-9dup	IDUA	Duplication (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 2971035	NM_000203.5(IDUA):c.792+16C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2967972	NM_000203.5(IDUA):c.291C>T (p.Val97=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2966932	NM_000203.5(IDUA):c.1371C>A (p.Thr457=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2966656	NM_000203.5(IDUA):c.386-12C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2966645	NM_000203.5(IDUA):c.1650+13C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2965149	NM_000203.5(IDUA):c.777C>T (p.Ile259=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2964496	NM_000203.5(IDUA):c.1727+19_1727+21del	IDUA	Deletion (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2964440	NM_000203.5(IDUA):c.1828+15dup	IDUA	Duplication (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2963445	NM_000203.5(IDUA):c.792+14C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2961353	NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)	IDUA (T232K +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GLikely pathogenic
Select item 2960011	NM_000203.5(IDUA):c.972+10C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2959727	NM_000203.5(IDUA):c.175del (p.Ser59fs)	IDUA, SLC26A1 (S59fs)	Deletion (frameshift variant +3 more)	Mucopolysaccharidosis type 1	GPathogenic
Select item 2958819	NM_000203.5(IDUA):c.1524+12G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2955455	NM_000203.5(IDUA):c.996G>A (p.Leu332=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2919260	NM_000203.5(IDUA):c.792+20C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2917163	NM_000203.5(IDUA):c.300-13C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2917096	NM_000203.5(IDUA):c.1190-12C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2916801	NM_000203.5(IDUA):c.1525-17C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2916743	NM_000203.5(IDUA):c.633C>T (p.Ala211=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2915698	NM_000203.5(IDUA):c.973-14C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2914974	NM_000203.5(IDUA):c.1524+17G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2914414	NM_000203.5(IDUA):c.1190-14C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2914410	NM_000203.5(IDUA):c.984G>C (p.Gln328His)	IDUA (Q328H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2914149	NM_000203.5(IDUA):c.300-8T>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2914028	NM_000203.5(IDUA):c.159-20C>A	SLC26A1, IDUA	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2913848	NM_000203.5(IDUA):c.1727+17G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2913581	NM_000203.5(IDUA):c.1189+13C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2912624	NM_000203.5(IDUA):c.792+18G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2912295	NM_000203.5(IDUA):c.1190-13C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2911419	NM_000203.5(IDUA):c.792+17C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2911369	NM_000203.5(IDUA):c.300-12G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2910181	NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)	IDUA (Y625S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GLikely pathogenic
Select item 2909201	NM_000203.5(IDUA):c.1110G>A (p.Gln370=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2909118	NM_000203.5(IDUA):c.1650+10A>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2908848	NM_000203.5(IDUA):c.299+14A>G	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 2907976	NM_000203.5(IDUA):c.1403-20C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2906719	NM_000203.5(IDUA):c.1403-9G>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2906519	NM_000203.5(IDUA):c.1190-9G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2906130	NM_000203.5(IDUA):c.1190-12_1190-11insG	IDUA	Insertion (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2906012	NM_000203.5(IDUA):c.471C>T (p.Ser157=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2905902	NM_000203.5(IDUA):c.1190-14_1190-13insT	IDUA	Insertion (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2904670	NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)	IDUA (T278P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1	GUncertain significance
Select item 2903623	NM_000203.5(IDUA):c.1829-12C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2902676	NM_000203.5(IDUA):c.1525-15G>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2902223	NM_000203.5(IDUA):c.493+20G>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2900602	NM_000203.5(IDUA):c.1524+18G>C	IDUA	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 2896985	NM_000203.5(IDUA):c.1190-11C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2895988	NM_000203.5(IDUA):c.385+19C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2895245	NM_000203.5(IDUA):c.1173G>T (p.Gly391=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2894873	NM_000203.5(IDUA):c.1524+13C>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2890126	NM_000203.5(IDUA):c.1190-11_1190-10insT	IDUA	Insertion (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2887848	NM_000203.5(IDUA):c.1190-11C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2887075	NM_000203.5(IDUA):c.494-19C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2884880	NM_000203.5(IDUA):c.1524+15G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2882541	NM_000203.5(IDUA):c.1812C>G (p.Leu604=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2880411	NM_000203.5(IDUA):c.1651-15C>T	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2878822	NM_000203.5(IDUA):c.378C>G (p.Leu126=)	IDUA	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2876615	NM_000203.5(IDUA):c.1402+20A>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2874647	NM_000203.5(IDUA):c.414C>G (p.Gly138=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2873628	NM_000203.5(IDUA):c.1329C>T (p.Ser443=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2871298	NM_000203.5(IDUA):c.1190-12C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2869277	NM_000203.5(IDUA):c.1854C>T (p.Tyr618=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
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 2866480	NM_000203.5(IDUA):c.1338C>T (p.Thr446=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign
Select item 2866219	NM_000203.5(IDUA):c.402C>A (p.Gly134=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 1	GLikely benign

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