ClinVar for Gene (Select 283989) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3582828	NM_207346.3(TSEN54):c.80_102del (p.Arg27fs)	LOC112533671, TSEN54 (R27fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 2A +2 more	GLikely pathogenic
Select item 3462764	NM_207346.3(TSEN54):c.997G>A (p.Asp333Asn)	TSEN54 (D333N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3462762	NM_207346.3(TSEN54):c.809C>T (p.Pro270Leu)	TSEN54 (P270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3462761	NM_207346.3(TSEN54):c.1448C>A (p.Pro483Gln)	TSEN54 (P483Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3462760	NM_207346.3(TSEN54):c.22G>T (p.Ala8Ser)	LOC112533671, TSEN54 (A8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3462759	NM_207346.3(TSEN54):c.563C>G (p.Ala188Gly)	TSEN54 (A188G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3462758	NM_207346.3(TSEN54):c.148G>A (p.Ala50Thr)	TSEN54 (A50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3462756	NM_207346.3(TSEN54):c.1145A>G (p.Lys382Arg)	TSEN54 (K382R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365825	NM_207346.3(TSEN54):c.1066C>T (p.His356Tyr)	TSEN54 (H356Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364093	NM_207346.3(TSEN54):c.308dup (p.Phe104fs)	TSEN54 (F104fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3355549	NM_207346.3(TSEN54):c.1253-10_1253-9del	TSEN54	Microsatellite (intron variant)	TSEN54-related disorder	GLikely benign
Select item 3348888	NM_207346.3(TSEN54):c.1030del (p.Arg344fs)	TSEN54 (R344fs)	Deletion (frameshift variant)	TSEN54-related disorder	GLikely pathogenic
Select item 3342904	NM_207346.3(TSEN54):c.898C>T (p.Gln300Ter)	TSEN54 (Q300*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3329562	NM_207346.3(TSEN54):c.1126T>G (p.Ser376Ala)	TSEN54 (S376A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329560	NM_207346.3(TSEN54):c.350C>T (p.Ala117Val)	TSEN54 (A117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243217	NC_000017.10:g.(?_73512642)_(73520493_?)del	TSEN54	Deletion	not provided	GPathogenic
Select item 3183602	NM_207346.3(TSEN54):c.215A>C (p.Glu72Ala)	TSEN54 (E72A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183601	NM_207346.3(TSEN54):c.184C>A (p.Leu62Ile)	TSEN54 (L62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183600	NM_207346.3(TSEN54):c.166C>T (p.Arg56Cys)	TSEN54 (R56C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183598	NM_207346.3(TSEN54):c.1556C>T (p.Thr519Met)	TSEN54 (T519M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183597	NM_207346.3(TSEN54):c.1102G>A (p.Ala368Thr)	TSEN54 (A368T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183596	NM_207346.3(TSEN54):c.1058G>T (p.Arg353Leu)	TSEN54 (R353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068286	NM_207346.3(TSEN54):c.624-10C>G	TSEN54	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2A	GUncertain significance
Select item 3063937	NM_207346.3(TSEN54):c.621_623+9del	TSEN54	Deletion (splice donor variant)	Pontoneocerebellar hypoplasia	GLikely pathogenic
Select item 3063533	GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1	CASKIN2, GRB2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3038808	NM_207346.3(TSEN54):c.474C>T (p.Phe158=)	TSEN54	Single nucleotide variant (synonymous variant)	TSEN54-related disorder	GLikely benign
Select item 3030426	NM_207346.3(TSEN54):c.40G>A (p.Ala14Thr)	LOC112533671, TSEN54 (A14T)	Single nucleotide variant (missense variant)	TSEN54-related disorder	GUncertain significance
Select item 3021617	NM_207346.3(TSEN54):c.522-19C>G	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021580	NM_207346.3(TSEN54):c.1252+16G>A	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020418	NM_207346.3(TSEN54):c.174C>T (p.Cys58=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019444	NM_207346.3(TSEN54):c.1272C>T (p.Ile424=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019086	NM_207346.3(TSEN54):c.1313+9C>G	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019080	NM_207346.3(TSEN54):c.21C>G (p.Pro7=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017340	NM_207346.3(TSEN54):c.1224G>T (p.Leu408=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013806	NM_207346.3(TSEN54):c.469-10T>C	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013601	NM_207346.3(TSEN54):c.424C>T (p.Gln142Ter)	TSEN54 (Q142*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3013355	NM_207346.3(TSEN54):c.132G>C (p.Leu44=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012296	NM_207346.3(TSEN54):c.444C>T (p.His148=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010621	NM_207346.3(TSEN54):c.810G>T (p.Pro270=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009655	NM_207346.3(TSEN54):c.522-19C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009521	NM_207346.3(TSEN54):c.457C>T (p.Leu153=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006397	NM_207346.3(TSEN54):c.309C>T (p.Gly103=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003246	NM_207346.3(TSEN54):c.652G>A (p.Asp218Asn)	TSEN54 (D218N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2999403	NM_207346.3(TSEN54):c.1554C>T (p.Phe518=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998890	NM_207346.3(TSEN54):c.162G>A (p.Arg54=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998804	NM_207346.3(TSEN54):c.948C>T (p.Arg316=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998033	NM_207346.3(TSEN54):c.480C>T (p.His160=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997482	NM_207346.3(TSEN54):c.963G>A (p.Glu321=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996430	NM_207346.3(TSEN54):c.72C>T (p.Phe24=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995758	NM_207346.3(TSEN54):c.1111G>T (p.Glu371Ter)	TSEN54 (E371*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2995499	NM_207346.3(TSEN54):c.468+19C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995394	NM_207346.3(TSEN54):c.222-20C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995393	NM_207346.3(TSEN54):c.885C>T (p.Arg295=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994386	NM_207346.3(TSEN54):c.57-18C>T	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993973	NM_207346.3(TSEN54):c.1317G>A (p.Leu439=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993872	NM_207346.3(TSEN54):c.1162C>A (p.Arg388=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993760	NM_207346.3(TSEN54):c.793G>A (p.Gly265Ser)	TSEN54 (G265S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2993614	NM_207346.3(TSEN54):c.303C>T (p.Thr101=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993564	NM_207346.3(TSEN54):c.1470G>T (p.Arg490=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991684	NM_207346.3(TSEN54):c.285+15CGGGGAC[3]	TSEN54	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2988993	NM_207346.3(TSEN54):c.623+7C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986589	NM_207346.3(TSEN54):c.576C>T (p.His192=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985680	NM_207346.3(TSEN54):c.222-13C>G	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981796	NM_207346.3(TSEN54):c.285+9C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981079	NM_207346.3(TSEN54):c.135C>T (p.Pro45=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980517	NM_207346.3(TSEN54):c.222-8C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980172	NM_207346.3(TSEN54):c.522-18G>A	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980078	NM_207346.3(TSEN54):c.984_988del (p.Arg330fs)	TSEN54 (R330fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2977289	NM_207346.3(TSEN54):c.1221G>A (p.Pro407=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974323	NM_207346.3(TSEN54):c.510A>T (p.Arg170=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972712	NM_207346.3(TSEN54):c.370-13G>A	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968626	NM_207346.3(TSEN54):c.1077C>T (p.Ala359=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968523	NM_207346.3(TSEN54):c.1275T>C (p.Ser425=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967921	NM_207346.3(TSEN54):c.858C>T (p.Asn286=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966260	NM_207346.3(TSEN54):c.225C>T (p.Gly75=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965985	NM_207346.3(TSEN54):c.521+15_521+26del	TSEN54	Deletion (intron variant)	not provided	GLikely benign
Select item 2965067	NM_207346.3(TSEN54):c.369+11C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964885	NM_207346.3(TSEN54):c.1140G>A (p.Glu380=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964385	NM_207346.3(TSEN54):c.1431-10G>C	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963300	NM_207346.3(TSEN54):c.56+11G>A	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962704	NM_207346.3(TSEN54):c.469-13_469-9del	TSEN54	Deletion (intron variant)	not provided	GLikely benign
Select item 2962639	NM_207346.3(TSEN54):c.370-11C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962065	NM_207346.3(TSEN54):c.624-15C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961742	NM_207346.3(TSEN54):c.5AGCCCG[4] (p.Pro7_Ala8insGluPro)	LOC112533671, TSEN54	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2961560	NM_207346.3(TSEN54):c.1384C>T (p.Arg462Ter)	TSEN54 (R462*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2959939	NM_207346.3(TSEN54):c.521+10C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959526	NM_207346.3(TSEN54):c.468+10A>G	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959287	NM_207346.3(TSEN54):c.1110C>T (p.Pro370=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959089	NM_207346.3(TSEN54):c.1431-16C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957902	NM_207346.3(TSEN54):c.468+20C>G	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957489	NM_207346.3(TSEN54):c.56+9CGGCC[3]	LOC112533671, TSEN54	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2957488	NM_207346.3(TSEN54):c.56+2T>A	LOC112533671, TSEN54	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2957023	NM_207346.3(TSEN54):c.1252+14C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955646	NM_207346.3(TSEN54):c.1557G>A (p.Thr519=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955639	NM_207346.3(TSEN54):c.45G>T (p.Gly15=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920217	NM_207346.3(TSEN54):c.469-9del	TSEN54	Deletion (intron variant)	not provided	GLikely benign
Select item 2916722	NM_207346.3(TSEN54):c.522-8C>T	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916666	NM_207346.3(TSEN54):c.1056A>G (p.Glu352=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912399	NM_207346.3(TSEN54):c.705C>T (p.Ser235=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909350	NM_207346.3(TSEN54):c.498T>C (p.Tyr166=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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