ClinVar for MedGen (Select 1680655) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585167	NM_182961.4(SYNE1):c.4828A>T (p.Thr1610Ser)	SYNE1 (T1610S +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 2585100	NM_182961.4(SYNE1):c.4003A>G (p.Ile1335Val)	SYNE1 (I1335V +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 2585099	NM_182961.4(SYNE1):c.4807G>A (p.Glu1603Lys)	SYNE1 (E1610K +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 2585071	NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter)	SYNE1, SYNE1-AS1 (S2954* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Arthrogryposis multiplex congenita 3, myogenic type	GLikely pathogenic
Select item 2500093	NM_182961.4(SYNE1):c.-224+1G>A	SYNE1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 3, myogenic type +2 more	GUncertain significance
Select item 1985311	NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)	SYNE1 (W7930fs +3 more)	Microsatellite (frameshift variant)	Autosomal recessive ataxia, Beauce type +1 more	GPathogenic
Select item 1711865	NM_182961.4(SYNE1):c.6724-3C>T	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 1706575	NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)	SYNE1 (W7690* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic
Select item 1706574	NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)	SYNE1 (Q6248* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic
Select item 1631770	NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1521605	NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)	SYNE1 (G8278R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 1468986	NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys)	SYNE1 (N7020K +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type +2 more	GUncertain significance
Select item 1334391	NM_182961.4(SYNE1):c.25717A>T (p.Lys8573Ter)	SYNE1 (K751* +3 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 3, myogenic type	GLikely pathogenic
Select item 1216153	NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)	SYNE1 (V3272L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 1172548	NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly)	SYNE1 (R8670G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1030076	NM_182961.4(SYNE1):c.25523A>G (p.Glu8508Gly)	SYNE1 (E710G +3 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 1030073	NM_182961.4(SYNE1):c.12955A>C (p.Ser4319Arg)	SYNE1 (S4319R +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 1002208	NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)	SYNE1 (V6245I +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type +2 more	GUncertain significance
Select item 982830	NM_182961.4(SYNE1):c.8769G>T (p.Met2923Ile)	SYNE1, SYNE1-AS1 (M2923I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Arthrogryposis multiplex congenita 3, myogenic type	GUncertain significance
Select item 982828	NM_182961.4(SYNE1):c.17187G>C (p.Gln5729His)	LOC126859837, SYNE1 (Q5658H +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type +1 more	GUncertain significance
Select item 951061	NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)	SYNE1 (R303C +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GUncertain significance
Select item 805573	NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)	SYNE1 (R819Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 779216	NM_182961.4(SYNE1):c.3837+9G>A	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GLikely benign
Select item 670185	NM_182961.4(SYNE1):c.17203-48G>A	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GBenign
Select item 663787	NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)	SYNE1 (N3712H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 648470	NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)	SYNE1 (R7507H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 635787	NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	ESR1, SYNE1 (R8746* +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic
Select item 596404	NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu)	SYNE1 (K3791E +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GUncertain significance
Select item 596074	NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)	SYNE1 (S3132G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 595562	NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)	SYNE1 (M1683R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 508901	NM_182961.4(SYNE1):c.20199+16C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign/Likely benign
Select item 471036	NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)	SYNE1 (R82W)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GUncertain significance
Select item 355948	NM_182961.4(SYNE1):c.402+11A>G	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GBenign/Likely benign
Select item 355885	NM_182961.4(SYNE1):c.11581-15dup	SYNE1	Duplication (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +5 more	GBenign
Select item 355877	NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)	SYNE1 (E4473K +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 355867	NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)	SYNE1 (D5034N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 290701	NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)	SYNE1 (D4020G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 286464	NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)	SYNE1 (A1637V +1 more)	Single nucleotide variant (missense variant)	SYNE1-related disorder +5 more	GBenign/Likely benign
Select item 285986	NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 285705	NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)	SYNE1 (P3986L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign/Likely benign
Select item 285642	NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)	SYNE1 (N8090H +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 285297	NM_182961.4(SYNE1):c.12411C>T (p.His4137=)	SYNE1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 285295	NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)	SYNE1 (R81C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 284512	NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)	SYNE1 (R8122* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 284498	NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)	SYNE1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GBenign/Likely benign
Select item 284474	NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)	LOC126859837, SYNE1 (R5591C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 284389	NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign/Likely benign
Select item 284280	NM_182961.4(SYNE1):c.19692+3G>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 283936	NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)	LOC126859837, SYNE1 (R5662S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 283391	NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)	SYNE1 (E1169V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
Select item 282114	NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)	SYNE1 (T3725A +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 279936	NM_182961.4(SYNE1):c.226-2dup	SYNE1	Duplication (splice acceptor variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 263075	NM_182961.4(SYNE1):c.11734-5T>G	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +4 more	GBenign
Select item 262204	NM_182961.4(SYNE1):c.9651+47C>T	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 262202	NM_182961.4(SYNE1):c.9147-13G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign
Select item 262201	NM_182961.4(SYNE1):c.8177+20A>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 262200	NM_182961.4(SYNE1):c.7713-49G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262198	NM_182961.4(SYNE1):c.7029+45T>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262196	NM_182961.4(SYNE1):c.3505-39A>C	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 262176	NM_182961.4(SYNE1):c.19471-18C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign
Select item 262172	NM_182961.4(SYNE1):c.17346+38C>T	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 262171	NM_182961.4(SYNE1):c.17202+24G>A	SYNE1, LOC126859837	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GBenign
Select item 262164	NM_182961.4(SYNE1):c.1463+24G>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262162	NM_182961.4(SYNE1):c.1351-24A>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262161	NM_182961.4(SYNE1):c.130-25C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262160	NM_182961.4(SYNE1):c.12795-12A>G	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 262158	NM_182961.4(SYNE1):c.12352-39A>G	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 262154	NM_182961.4(SYNE1):c.11580+15C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign
Select item 262153	NM_182961.4(SYNE1):c.11254-31T>G	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 198378	NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)	SYNE1 (K3714N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 198335	NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)	SYNE1 (S3346Y +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 193775	NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)	SYNE1 (N6432S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +5 more	GBenign/Likely benign
Select item 130453	NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 130451	NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)	SYNE1 (I2779S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 130445	NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)	SYNE1 (T1586K +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign/Likely benign
Select item 130442	NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)	SYNE1 (R1284W +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GUncertain significance
Select item 130441	NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)	SYNE1	Single nucleotide variant (synonymous variant)	SYNE1-related disorder +5 more	GBenign/Likely benign
Select item 130438	NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)	SYNE1 (V1035A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 130430	NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)	SYNE1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 130419	NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)	SYNE1 (F7231V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 130418	NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign/Likely benign
Select item 130413	NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)	LOC129997480, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 130412	NM_182961.4(SYNE1):c.17346+7G>A	SYNE1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 130408	NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)	SYNE1 (L4944M +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type +4 more	GBenign
Select item 130404	NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)	SYNE1 (S4525T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 130399	NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)	SYNE1 (K4050R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 130397	NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)	SYNE1 (E3989D +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 130393	NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 130392	NM_182961.4(SYNE1):c.1047+4T>A	SYNE1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 130389	NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)	SYNE1 (G3403S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 130388	NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 2335	NM_182961.4(SYNE1):c.24313-2A>G	SYNE1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 3, myogenic type	GPathogenic

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Items: 92