80746[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 369384	NM_025265.4(TSEN2):c.-391G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 343052	NM_025265.4(TSEN2):c.-382A>C	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343053	NM_025265.4(TSEN2):c.-374G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343054	NM_025265.4(TSEN2):c.-373C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343055	NM_025265.4(TSEN2):c.-355C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 901983	NM_025265.4(TSEN2):c.-353G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 901984	NM_025265.4(TSEN2):c.-297C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 901985	NM_025265.4(TSEN2):c.-293A>G	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 901986	NM_025265.4(TSEN2):c.-224G>C	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343056	NM_025265.4(TSEN2):c.-222G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343057	NM_025265.4(TSEN2):c.-220G>A	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 343058	NM_025265.4(TSEN2):c.-219C>G	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343059	NM_025265.4(TSEN2):c.-209G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 343060	NM_025265.4(TSEN2):c.-201C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343061	NM_025265.4(TSEN2):c.-200C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343062	NM_025265.4(TSEN2):c.-199G>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GBenign
Select item 343063	NM_025265.4(TSEN2):c.-173C>T	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GLikely benign
Select item 343064	NM_025265.4(TSEN2):c.-160C>G	LOC129936171, TSEN2	Single nucleotide variant (intron variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343065	NM_025265.4(TSEN2):c.-130T>C	LOC129936171, TSEN2	Single nucleotide variant (intron variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 902883	NM_025265.4(TSEN2):c.-105A>G	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 2653539	NM_025265.4(TSEN2):c.-98_-96del	LOC129936171, TSEN2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 902884	NM_025265.4(TSEN2):c.-91A>C	LOC129936171, TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 343066	NM_025265.4(TSEN2):c.-20G>A	TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GLikely benign
Select item 517053	NM_025265.4(TSEN2):c.-18+1G>T	TSEN2	Single nucleotide variant (intron variant +1 more)	TSEN2-related condition +1 more	GBenign/Likely benign
Select item 343067	NM_025265.4(TSEN2):c.-18+10G>A	TSEN2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 1273097	NM_025265.4(TSEN2):c.-18+23G>C	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148966	GRCh38/hg38 3p25.2(chr3:12487565-12997325)x3	CAND2, IQSEC1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 1199032	NM_025265.4(TSEN2):c.-17-258G>A	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296015	NM_025265.4(TSEN2):c.-17-218G>T	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263063	NM_025265.4(TSEN2):c.-17-118T>A	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678921	NM_025265.4(TSEN2):c.-17-115A>G	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 900330	NM_025265.4(TSEN2):c.-13C>T	TSEN2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 2444490	NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)	TSEN2 (A8D)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2B	GPathogenic
Select item 3022816	NM_025265.4(TSEN2):c.24C>G (p.Ala8=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 160116	NM_025265.4(TSEN2):c.66A>C (p.Pro22=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1448678	NM_025265.4(TSEN2):c.73A>G (p.Ile25Val)	TSEN2 (I25V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 343068	NM_025265.4(TSEN2):c.105A>G (p.Lys35=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160102	NM_025265.4(TSEN2):c.108A>G (p.Glu36=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 343069	NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys)	TSEN2 (F40C)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 160104	NM_025265.4(TSEN2):c.122G>T (p.Arg41Leu)	TSEN2 (R41L)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 160103	NM_025265.4(TSEN2):c.122G>C (p.Arg41Pro)	TSEN2 (R41P)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 137752	NM_025265.4(TSEN2):c.122G>A (p.Arg41His)	TSEN2 (R41H)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 1345451	NM_025265.4(TSEN2):c.131T>C (p.Met44Thr)	TSEN2 (M44T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 212443	NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)	TSEN2 (N48del)	Microsatellite (inframe_deletion +1 more)	Pontocerebellar hypoplasia type 2B	GLikely pathogenic
Select item 1482809	NM_025265.4(TSEN2):c.161C>T (p.Ala54Val)	TSEN2 (A54V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 160109	NM_025265.4(TSEN2):c.162G>C (p.Ala54=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 137753	NM_025265.4(TSEN2):c.162G>A (p.Ala54=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 2555418	NM_025265.4(TSEN2):c.176A>G (p.Gln59Arg)	TSEN2 (Q59R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1900269	NM_025265.4(TSEN2):c.188A>G (p.Lys63Arg)	TSEN2 (K63R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1228743	NM_025265.4(TSEN2):c.189+93A>G	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261110	NM_025265.4(TSEN2):c.189+267dup	TSEN2	Duplication (intron variant)	not provided	GBenign
Select item 667568	NM_025265.4(TSEN2):c.190-300A>C	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193191	NM_025265.4(TSEN2):c.190-130C>A	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188081	NM_025265.4(TSEN2):c.190-57C>T	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2228672	NM_025265.4(TSEN2):c.215C>A (p.Ser72Ter)	TSEN2 (S72*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1373456	NM_025265.4(TSEN2):c.223C>T (p.Arg75Cys)	TSEN2 (R75C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1635571	NM_025265.4(TSEN2):c.231C>T (p.Ser77=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1695990	NM_025265.4(TSEN2):c.241T>G (p.Ser81Ala)	TSEN2 (S81A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2354963	NM_025265.4(TSEN2):c.248C>G (p.Pro83Arg)	TSEN2 (P83R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215328	NM_025265.4(TSEN2):c.271G>C (p.Asp91His)	TSEN2 (D91H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2965207	NM_025265.4(TSEN2):c.271+11_271+13del	TSEN2	Microsatellite (intron variant)	not provided	GBenign
Select item 261877	NM_025265.4(TSEN2):c.271+39del	TSEN2	Deletion (intron variant)	not specified	GLikely benign
Select item 1248084	NM_025265.4(TSEN2):c.272-263A>G	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204863	NM_025265.4(TSEN2):c.272-93T>C	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259132	NM_025265.4(TSEN2):c.272-62T>A	TSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 160110	NM_025265.4(TSEN2):c.272-4C>G	TSEN2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 2781520	NM_025265.4(TSEN2):c.272-3C>T	TSEN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1926348	NM_025265.4(TSEN2):c.292A>G (p.Ile98Val)	TSEN2 (I98V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2522794	NM_025265.4(TSEN2):c.295A>G (p.Ile99Val)	TSEN2 (I99V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1579022	NM_025265.4(TSEN2):c.308+19T>C	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210628	NM_025265.4(TSEN2):c.308+58A>G	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189354	NM_025265.4(TSEN2):c.308+198T>G	TSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968396	NM_025265.4(TSEN2):c.309-9G>A	TSEN2	Single nucleotide variant (intron variant)	TSEN2-related condition +1 more	GLikely benign
Select item 167750	NM_025265.4(TSEN2):c.309G>A (p.Arg103=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 160111	NM_025265.4(TSEN2):c.322G>T (p.Val108Phe)	TSEN2 (V108F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 137749	NM_025265.4(TSEN2):c.327G>A (p.Glu109=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 499263	NM_025265.4(TSEN2):c.331G>A (p.Ala111Thr)	TSEN2 (A111T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2653540	NM_025265.4(TSEN2):c.351A>G (p.Arg117=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 495253	NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)	TSEN2 (Q118fs)	Deletion (frameshift variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GLikely pathogenic
Select item 744241	NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys)	TSEN2 (R126C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 96175	NM_025265.4(TSEN2):c.377G>A (p.Arg126His)	TSEN2 (R126H)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 160112	NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr)	TSEN2 (K130T)	Single nucleotide variant (missense variant +1 more)	Pontoneocerebellar hypoplasia +3 more	GBenign/Likely benign
Select item 1416823	NM_025265.4(TSEN2):c.403C>T (p.Pro135Ser)	TSEN2 (P135S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311253	NM_025265.4(TSEN2):c.404C>T (p.Pro135Leu)	TSEN2 (P135L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736209	NM_025265.4(TSEN2):c.405G>A (p.Pro135=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 2314095	NM_025265.4(TSEN2):c.422T>A (p.Val141Glu)	TSEN2 (V141E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 212444	NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser)	TSEN2 (N144S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2973100	NM_025265.4(TSEN2):c.462C>T (p.Asn154=)	TSEN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1695989	NM_025265.4(TSEN2):c.472G>A (p.Val158Ile)	TSEN2 (V158I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2842334	NM_025265.4(TSEN2):c.488G>A (p.Gly163Asp)	TSEN2 (G163D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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