ClinVar for Gene (Select 7054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176817	NM_000360.4(TH):c.412C>G (p.Arg138Gly)	TH (R138G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176816	NM_000360.4(TH):c.173C>T (p.Ala58Val)	TH (A89V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176814	NM_000360.4(TH):c.938A>C (p.Tyr313Ser)	TH (Y313S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068430	NM_000360.4(TH):c.487+118G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 3064405	NM_000360.4(TH):c.821A>G (p.Asp274Gly)	TH (D274G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 3043960	NM_000360.4(TH):c.517C>T (p.Leu173=)	TH	Single nucleotide variant (synonymous variant)	TH-related condition	GLikely benign
Select item 3040098	NM_000360.4(TH):c.842-38C>G	TH	Single nucleotide variant (intron variant)	TH-related condition	GLikely benign
Select item 3023724	NM_000360.4(TH):c.138C>A (p.Arg46=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3022669	NM_000360.4(TH):c.1104+11C>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3019526	NM_000360.4(TH):c.1335-11C>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3017636	NM_000360.4(TH):c.91-885C>T	TH	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3014832	NM_000360.4(TH):c.909G>A (p.Leu303=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3011611	NM_000360.4(TH):c.312+13C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3010748	NM_000360.4(TH):c.313-8T>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3009879	NM_000360.4(TH):c.91-883dup	TH (S36fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 3005594	NM_000360.4(TH):c.1105-11C>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3005477	NM_000360.4(TH):c.488-11C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3002566	NM_000360.4(TH):c.1071G>A (p.Gly357=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 3000135	NM_000360.4(TH):c.318T>C (p.Phe106=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2996655	NM_000360.4(TH):c.1104+19G>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2996441	NM_000360.4(TH):c.1152G>A (p.Glu384=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2995005	NM_000360.4(TH):c.90+20C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2993519	NM_000360.4(TH):c.45C>T (p.Arg15=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2989641	NM_000360.4(TH):c.279C>G (p.Pro93=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2989374	NM_000360.4(TH):c.1131G>A (p.Gly377=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2983884	NM_000360.4(TH):c.313-13T>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2981855	NM_000360.4(TH):c.1048-20_1048-14dup	TH	Duplication (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2979222	NM_000360.4(TH):c.1068G>T (p.Leu356=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2975627	NM_000360.4(TH):c.1334+16A>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2964556	NM_000360.4(TH):c.1048-13C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2960370	NM_000360.4(TH):c.1116C>T (p.Phe372=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2955744	NM_000360.4(TH):c.91-907C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2919878	NM_000360.4(TH):c.1048-13C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2919265	NM_000360.4(TH):c.1229G>C (p.Arg410Pro)	TH (R437P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2918364	NM_000360.4(TH):c.1057C>T (p.Leu353=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2915584	NM_000360.4(TH):c.977+13C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2914944	NM_000360.4(TH):c.1437G>A (p.Leu479=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2912973	NM_000360.4(TH):c.977+16G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2912846	NM_000360.4(TH):c.695+11C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2912171	NM_000360.4(TH):c.312+12G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2910299	NM_000360.4(TH):c.91-10G>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2908950	NM_000360.4(TH):c.577-19G>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2908003	NM_000360.4(TH):c.842-7C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2907685	NM_000360.4(TH):c.6C>T (p.Pro2=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2906151	NM_000360.4(TH):c.1209G>C (p.Leu403=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2905675	NM_000360.4(TH):c.977+11G>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2901892	NM_000360.4(TH):c.90+14T>A	TH	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2901089	NM_000360.4(TH):c.925C>T (p.Gln309Ter)	TH (Q309* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 2899924	NM_000360.4(TH):c.1105-17G>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2899428	NM_000360.4(TH):c.841+13G>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2898016	NM_000360.4(TH):c.1353C>T (p.Ile451=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2897658	NM_000360.4(TH):c.948C>T (p.His316=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2896175	NM_000360.4(TH):c.1044G>A (p.Ser348=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2895473	NM_000360.4(TH):c.842-16G>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2892880	NM_000360.4(TH):c.942C>T (p.Ile314=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2891440	NM_000360.4(TH):c.1068G>A (p.Leu356=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2889920	NM_000360.4(TH):c.977+11G>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2886889	NM_000360.4(TH):c.313-12T>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2885673	NM_000360.4(TH):c.198C>T (p.Asp66=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2885324	NM_000360.4(TH):c.1330C>T (p.Leu444Phe)	TH (L475F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2885095	NM_000360.4(TH):c.282G>T (p.Ser94=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2884855	NM_000360.4(TH):c.816G>A (p.Leu272=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2882113	NM_000360.4(TH):c.723C>T (p.Gly241=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2881237	NM_000360.4(TH):c.91-897C>A	TH	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2878175	NM_000360.4(TH):c.696-10C>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2874392	NM_000360.4(TH):c.177A>T (p.Ala59=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2872216	NM_000360.4(TH):c.494G>A (p.Trp165Ter)	TH (W196* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 2868531	NM_000360.4(TH):c.503G>A (p.Arg168Lys)	TH (R168K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2868172	NM_000360.4(TH):c.91-882C>T	TH	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2866054	NM_000360.4(TH):c.90+22C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2863094	NM_000360.4(TH):c.1048-16C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2861451	NM_000360.4(TH):c.1047+1G>T	TH	Single nucleotide variant (splice donor variant)	Autosomal recessive DOPA responsive dystonia	GLikely pathogenic
Select item 2858893	NM_000360.4(TH):c.695+20A>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2858412	NM_000360.4(TH):c.545_546del (p.Lys182fs)	TH (K209fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 2857386	NM_000360.4(TH):c.916del (p.Arg306fs)	TH (R306fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 2855429	NM_000360.4(TH):c.978-20C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2854674	NM_000360.4(TH):c.577-6C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2853918	NM_000360.4(TH):c.91-840A>G	TH	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2853219	NM_000360.4(TH):c.1201-4C>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2853193	NM_000360.4(TH):c.1458G>A (p.Leu486=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2852296	NM_000360.4(TH):c.583del (p.Ser195fs)	TH (S195fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 2850791	NM_000360.4(TH):c.722G>A (p.Gly241Asp)	TH (G268D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2849648	NM_000360.4(TH):c.960C>T (p.Pro320=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2848271	NM_000360.4(TH):c.576+18C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2843520	NM_000360.4(TH):c.1182C>A (p.Ser394=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2839408	NM_000360.4(TH):c.933C>T (p.Thr311=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2838247	NM_000360.4(TH):c.841+8C>G	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2837991	NM_000360.4(TH):c.90+21C>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2835823	NM_000360.4(TH):c.711del (p.Thr238fs)	TH (T238fs +2 more)	Deletion (frameshift variant)	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 2832116	NM_000360.4(TH):c.1201-4C>A	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2832063	NM_000360.4(TH):c.1260G>A (p.Gln420=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2831780	NM_000360.4(TH):c.597C>T (p.Tyr199=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2831420	NM_000360.4(TH):c.423G>C (p.Leu141=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2828515	NM_000360.4(TH):c.90+30G>T	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2825030	NM_000360.4(TH):c.399C>T (p.Arg133=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2823486	NM_000360.4(TH):c.1428G>C (p.Arg476=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2821545	NM_000360.4(TH):c.1334+7T>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2819266	NM_000360.4(TH):c.522C>T (p.Asp174=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2813076	NM_000360.4(TH):c.841+14G>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign
Select item 2812784	NM_000360.4(TH):c.39C>T (p.Gly13=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia	GLikely benign

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