27561[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 667570	NM_207346.2(TSEN54):c.-337A>G	TSEN54	Single nucleotide variant	not provided	GBenign
Select item 667571	NM_207346.2(TSEN54):c.-288A>C	TSEN54	Single nucleotide variant	not provided	GBenign
Select item 1295937	NC_000017.11:g.75516282C>T	TSEN54	Single nucleotide variant	not provided	GBenign
Select item 1271834	NC_000017.11:g.75516305C>T	TSEN54	Single nucleotide variant	not provided	GBenign
Select item 160132	NM_207346.3(TSEN54):c.1A>C (p.Met1Leu)	LOC112533671, TSEN54 (M1L)	Single nucleotide variant (missense variant +1 more)	Olivopontocerebellar hypoplasia	GPathogenic
Select item 1325243	NM_207346.3(TSEN54):c.2T>C (p.Met1Thr)	LOC112533671, TSEN54 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 96674	NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])	TSEN54, LOC112533671	Duplication (inframe_insertion +1 more)	Pontoneocerebellar hypoplasia +3 more	GConflicting classifications of pathogenicity
Select item 2961742	NM_207346.3(TSEN54):c.5AGCCCG[4] (p.Pro7_Ala8insGluPro)	LOC112533671, TSEN54	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2803383	NM_207346.3(TSEN54):c.6G>A (p.Glu2=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286243	NM_207346.3(TSEN54):c.8_9insGGATCC (p.Pro3_Glu4insAspPro)	LOC112533671, TSEN54	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 193522	NM_207346.3(TSEN54):c.6G>C (p.Glu2Asp)	LOC112533671, TSEN54 (E2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983851	NM_207346.3(TSEN54):c.7C>T (p.Pro3Ser)	LOC112533671, TSEN54 (P3S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2895050	NM_207346.3(TSEN54):c.9C>G (p.Pro3=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882085	NM_207346.3(TSEN54):c.12G>A (p.Glu4=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484891	NM_207346.3(TSEN54):c.12_13delinsTT (p.Glu4_Pro5delinsAspSer)	LOC112533671, TSEN54	Indel (missense variant)	not provided	GUncertain significance
Select item 96673	NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp)	LOC112533671, TSEN54 (E4D)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 325080	NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser)	LOC112533671, TSEN54 (P5S)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 2801134	NM_207346.3(TSEN54):c.15C>T (p.Pro5=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761705	NM_207346.3(TSEN54):c.15C>A (p.Pro5=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710463	NM_207346.3(TSEN54):c.15C>G (p.Pro5=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701058	NM_207346.3(TSEN54):c.16G>T (p.Glu6Ter)	LOC112533671, TSEN54 (E6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 890764	NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln)	LOC112533671, TSEN54 (E6Q)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 1932218	NM_207346.3(TSEN54):c.18G>T (p.Glu6Asp)	LOC112533671, TSEN54 (E6D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1508667	NM_207346.3(TSEN54):c.20C>T (p.Pro7Leu)	LOC112533671, TSEN54 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1522975	NM_207346.3(TSEN54):c.25G>A (p.Ala9Thr)	LOC112533671, TSEN54 (A9T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748580	NM_207346.3(TSEN54):c.30G>A (p.Val10=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240267	NM_207346.3(TSEN54):c.37C>T (p.Pro13Ser)	LOC112533671, TSEN54 (P13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2769384	NM_207346.3(TSEN54):c.39C>G (p.Pro13=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	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 2955639	NM_207346.3(TSEN54):c.45G>T (p.Gly15=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835945	NM_207346.3(TSEN54):c.45G>A (p.Gly15=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790077	NM_207346.3(TSEN54):c.48C>T (p.Arg16=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745043	NM_207346.3(TSEN54):c.51G>A (p.Val17=)	LOC112533671, TSEN54	Single nucleotide variant (synonymous 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 2831240	NM_207346.3(TSEN54):c.56+3GCGGC[3]	LOC112533671, TSEN54	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2697959	NM_207346.3(TSEN54):c.56+7C>G	LOC112533671, 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 1991264	NM_207346.3(TSEN54):c.56+8G>A	LOC112533671, 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 2772670	NM_207346.3(TSEN54):c.56+13C>G	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818945	NM_207346.3(TSEN54):c.56+14C>G	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802438	NM_207346.3(TSEN54):c.56+19G>A	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657212	NM_207346.3(TSEN54):c.57-20C>T	LOC112533671, TSEN54	Single nucleotide variant (intron 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 2792967	NM_207346.3(TSEN54):c.57-17G>C	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781596	NM_207346.3(TSEN54):c.57-15C>T	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761716	NM_207346.3(TSEN54):c.57-12C>T	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818808	NM_207346.3(TSEN54):c.57-11T>C	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701616	NM_207346.3(TSEN54):c.57-6C>T	LOC112533671, TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850903	NM_207346.3(TSEN54):c.57-2A>C	LOC112533671, TSEN54	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2313091	NM_207346.3(TSEN54):c.61C>G (p.Arg21Gly)	LOC112533671, TSEN54 (R21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723550	NM_207346.3(TSEN54):c.61C>T (p.Arg21Trp)	LOC112533671, TSEN54 (R21W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 212455	NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)	TSEN54 (S28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 2709163	NM_207346.3(TSEN54):c.93G>A (p.Gln31=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769760	NM_207346.3(TSEN54):c.97C>T (p.Leu33=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395769	NM_207346.3(TSEN54):c.103dup (p.Gln35fs)	TSEN54 (Q35fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1549790	NM_207346.3(TSEN54):c.108C>T (p.Arg36=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937293	NM_207346.3(TSEN54):c.110C>G (p.Ser37Trp)	TSEN54 (S37W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96671	NM_207346.3(TSEN54):c.114T>G (p.His38Gln)	TSEN54 (H38Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2766893	NM_207346.3(TSEN54):c.123G>A (p.Lys41=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086581	NM_207346.3(TSEN54):c.126C>T (p.Asp42=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013355	NM_207346.3(TSEN54):c.132G>C (p.Leu44=)	TSEN54	Single nucleotide variant (synonymous 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 2791580	NM_207346.3(TSEN54):c.138C>T (p.Asp46=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497389	NM_207346.3(TSEN54):c.143C>T (p.Ser48Leu)	TSEN54 (S48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828597	NM_207346.3(TSEN54):c.144G>C (p.Ser48=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144879	NM_207346.3(TSEN54):c.145G>A (p.Ala49Thr)	TSEN54 (A49T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921186	NM_207346.3(TSEN54):c.151C>G (p.Gln51Glu)	TSEN54 (Q51E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347261	NM_207346.3(TSEN54):c.153G>C (p.Gln51His)	TSEN54 (Q51H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695834	NM_207346.3(TSEN54):c.158A>G (p.Glu53Gly)	TSEN54 (E53G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653625	NM_207346.3(TSEN54):c.159G>A (p.Glu53=)	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 1572037	NM_207346.3(TSEN54):c.163C>T (p.Leu55=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908478	NM_207346.3(TSEN54):c.165G>T (p.Leu55=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1033698	NM_207346.3(TSEN54):c.167G>A (p.Arg56His)	TSEN54 (R56H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A	GUncertain significance
Select item 3020418	NM_207346.3(TSEN54):c.174C>T (p.Cys58=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709171	NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly)	TSEN54 (R59G)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2A +1 more	GUncertain significance
Select item 287077	NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln)	TSEN54 (R59Q)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 445569	NM_207346.3(TSEN54):c.181G>A (p.Glu61Lys)	TSEN54 (E61K)	Single nucleotide variant (missense variant)	not provided	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 2709867	NM_207346.3(TSEN54):c.190C>T (p.Gln64Ter)	TSEN54 (Q64*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 596720	NM_207346.3(TSEN54):c.195G>A (p.Leu65=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1999677	NM_207346.3(TSEN54):c.197_198delinsGT (p.Leu66Arg)	TSEN54 (L66R)	Indel (missense variant)	not provided	GUncertain significance
Select item 1339726	NM_207346.3(TSEN54):c.197T>C (p.Leu66Pro)	TSEN54 (L66P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2162551	NM_207346.3(TSEN54):c.200C>G (p.Ala67Gly)	TSEN54 (A67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127465	NM_207346.3(TSEN54):c.203_204dup (p.Gln69fs)	TSEN54 (Q69fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1491097	NM_207346.3(TSEN54):c.200C>T (p.Ala67Val)	TSEN54 (A67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298682	NM_207346.3(TSEN54):c.207G>C (p.Gln69His)	TSEN54 (Q69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888533	NM_207346.3(TSEN54):c.210C>T (p.Arg70=)	TSEN54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931986	NM_207346.3(TSEN54):c.211G>A (p.Val71Met)	TSEN54 (V71M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1307938	NM_207346.3(TSEN54):c.221+1G>A	TSEN54	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1686281	NM_207346.3(TSEN54):c.221+3G>T	TSEN54	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 4	GPathogenic
Select item 1488303	NM_207346.3(TSEN54):c.221+6_221+7del	TSEN54	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1531710	NM_207346.3(TSEN54):c.221+7G>A	TSEN54	Single nucleotide variant (intron variant)	not provided	GLikely benign

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