"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SYNE1"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284514	NM_182961.4(SYNE1):c.26370C>A (p.Tyr8790Ter)	ESR1, SYNE1 (Y8742* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2436645	NM_182961.4(SYNE1):c.26344C>G (p.Arg8782Gly)	ESR1, SYNE1 (R8734G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 282403	NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)	SYNE1 (L8571P +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1493853	NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro)	SYNE1 (Q8526P +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 285365	NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)	SYNE1 (D8400N +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 3379720	NM_182961.4(SYNE1):c.24193C>T (p.Arg8065Cys)	SYNE1 (R220C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288855	NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)	SYNE1 (V7754I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 836454	NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys)	SYNE1 (S7677C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 500403	NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)	SYNE1 (S7668Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 1334086	NM_182961.4(SYNE1):c.22873G>A (p.Val7625Met)	SYNE1 (V7554M +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 283751	NM_182961.4(SYNE1):c.22346+6G>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GUncertain significance
Select item 282179	NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)	SYNE1 (R7364C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3379721	NM_182961.4(SYNE1):c.21538C>G (p.Leu7180Val)	LOC126859836, SYNE1 (L7109V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576512	NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)	SYNE1 (R7086C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 282284	NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)	SYNE1 (M7076T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287711	NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)	SYNE1 (R6979Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GConflicting classifications of pathogenicity
Select item 288080	NM_182961.4(SYNE1):c.20613G>T (p.Lys6871Asn)	SYNE1 (K6871N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289049	NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)	SYNE1 (R6817W +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 281293	NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)	SYNE1 (S6692L +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 290455	NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)	SYNE1 (E6720A +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 193777	NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)	SYNE1 (R6474S +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 199251	NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys)	SYNE1 (E6172K +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 288815	NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser)	SYNE1 (G6140S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286002	NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu)	SYNE1 (Q6137E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1009583	NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro)	SYNE1 (Q6124P +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 448564	NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu)	SYNE1 (V5879L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 199227	NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)	SYNE1 (S5872P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 281233	NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)	SYNE1 (R5809L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 286926	NM_182961.4(SYNE1):c.17162G>A (p.Arg5721Gln)	LOC126859837, SYNE1 (R5650Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432309	NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)	SYNE1, LOC126859837 (M5563T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 497337	NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro)	SYNE1 (S5505P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 282877	NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)	SYNE1 (R5432Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198947	NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)	SYNE1 (G5217A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 284130	NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)	SYNE1 (M5046T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1058224	NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln)	SYNE1 (E4971Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 593720	NM_182961.4(SYNE1):c.14791C>G (p.Gln4931Glu)	SYNE1 (Q4860E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290871	NM_182961.4(SYNE1):c.14533C>T (p.His4845Tyr)	SYNE1 (H4774Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500619	NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu)	SYNE1 (V4760L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1303390	NM_182961.4(SYNE1):c.14407A>G (p.Lys4803Glu)	SYNE1 (K4732E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807169	NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)	SYNE1 (R4693* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 198671	NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)	SYNE1 (L4684F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 355872	NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)	SYNE1 (L4570H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1253729	NM_182961.4(SYNE1):c.13300G>A (p.Val4434Met)	SYNE1 (V4363M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284455	NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)	SYNE1 (R4324C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1807180	NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)	SYNE1 (R4152H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2682960	NM_182961.4(SYNE1):c.12466A>G (p.Met4156Val)	SYNE1 (M4085V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162994	NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu)	SYNE1 (Q4059E +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 470992	NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser)	SYNE1 (P3990S +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 3379724	NM_182961.4(SYNE1):c.12005T>C (p.Leu4002Pro)	SYNE1 (L3931P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923960	NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)	SYNE1 (I3682V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3379725	NM_182961.4(SYNE1):c.11082G>A (p.Leu3694=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682858	NM_182961.4(SYNE1):c.10549C>T (p.Gln3517Ter)	SYNE1 (Q3517* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 198363	NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)	SYNE1 (R3492H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 547854	NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)	SYNE1 (D3406A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 940849	NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys)	SYNE1 (W3404C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 586698	NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)	SYNE1 (N3350D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 284574	NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)	SYNE1 (R3209C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 3379726	NM_182961.4(SYNE1):c.9585G>T (p.Met3195Ile)	SYNE1 (M3195I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282459	NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)	SYNE1 (S3133C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1024846	NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln)	SYNE1 (R2663Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 448611	NM_182961.4(SYNE1):c.7592T>C (p.Ile2531Thr)	SYNE1 (I2531T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286922	NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)	SYNE1 (K2486E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 281783	NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)	SYNE1 (T2359N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3381017	NM_182961.4(SYNE1):c.6144del (p.Asp2049fs)	SYNE1 (D2049fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1701512	NM_182961.4(SYNE1):c.6020A>G (p.Lys2007Arg)	SYNE1 (K2007R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499370	NM_182961.4(SYNE1):c.5963A>G (p.Glu1988Gly)	SYNE1 (E1988G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682860	NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)	SYNE1 (L1880fs +1 more)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 286235	NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)	SYNE1 (Q1716K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 282318	NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)	SYNE1 (M1690I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2682961	NM_182961.4(SYNE1):c.4946C>T (p.Ala1649Val)	SYNE1 (A1649V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197018	NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)	SYNE1 (A1608T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 288391	NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)	SYNE1 (P1578S +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 196799	NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	SYNE1 (F1369L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 951597	NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys)	SYNE1 (R1372C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 597499	NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)	SYNE1 (R1326H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 3379727	NM_182961.4(SYNE1):c.3956_3957delinsAA (p.Ser1319Lys)	SYNE1 (S1319K +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 570484	NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe)	SYNE1 (L1181F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3379728	NM_182961.4(SYNE1):c.3506A>C (p.Glu1169Ala)	SYNE1 (E1169A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 355931	NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala)	SYNE1 (T1145A +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 290881	NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)	SYNE1 (Y570H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 1162995	NM_182961.4(SYNE1):c.1484C>T (p.Thr495Ile)	SYNE1 (T495I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162996	NM_182961.4(SYNE1):c.1418dup (p.Asn473fs)	SYNE1 (N473fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3379729	NM_182961.4(SYNE1):c.1120A>G (p.Arg374Gly)	SYNE1 (R374G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193750	NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr)	SYNE1 (A288T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance

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Items: 84