"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 194449	NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)	SYNE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 285642	NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)	SYNE1 (N8090H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign/Likely benign
Select item 355819	NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn)	SYNE1 (D7915N +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign
Select item 130422	NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)	SYNE1 (S7435G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 355827	NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)	SYNE1 (A7339D +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 497838	NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 285329	NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 285298	NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)	SYNE1 (S5991L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GBenign
Select item 199226	NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)	SYNE1 (A5862T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 385983	NM_182961.4(SYNE1):c.17542-14A>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign/Likely benign
Select item 281175	NM_182961.4(SYNE1):c.17203-6dup	SYNE1	Duplication (intron variant)	not specified +1 more	GBenign
Select item 218861	NM_182961.4(SYNE1):c.17203-6del	SYNE1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign
Select item 199206	NM_182961.4(SYNE1):c.17203-7_17203-6del	SYNE1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy +3 more	GBenign/Likely benign
Select item 288636	NM_182961.4(SYNE1):c.15657+5T>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 130404	NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)	SYNE1 (S4525T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 284688	NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)	SYNE1 (V4475I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign/Likely benign
Select item 130401	NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His)	SYNE1 (D4077H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 286916	NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)	SYNE1 (T4117M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 355882	NM_182961.4(SYNE1):c.12079-12G>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign
Select item 262155	NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)	SYNE1 (C3950R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 674408	NM_182961.4(SYNE1):c.11861G>C (p.Ser3954Thr)	SYNE1 (S3954T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 283693	NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130391	NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)	SYNE1 (R3533H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 130389	NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)	SYNE1 (G3403S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign/Likely benign
Select item 281684	NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197955	NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)	SYNE1 (V2722I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 355910	NM_182961.4(SYNE1):c.7713-19_7713-13dup	SYNE1	Duplication (intron variant)	Cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1284729	NM_182961.4(SYNE1):c.7713-13del	SYNE1	Deletion (intron variant)	not provided	GBenign
Select item 355911	NM_182961.4(SYNE1):c.7556+14A>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GBenign
Select item 197575	NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)	SYNE1 (F2312L +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 197576	NM_182961.4(SYNE1):c.6826-6A>G	SYNE1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130448	NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg)	SYNE1 (K2157R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GBenign
Select item 355919	NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)	SYNE1 (I2045M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GBenign/Likely benign
Select item 197445	NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)	SYNE1 (R2000K +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 130446	NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu)	SYNE1 (D1730E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 197087	NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)	SYNE1 (A1701S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 281953	NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 289840	NM_182961.4(SYNE1):c.4789-13G>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign/Likely benign
Select item 355928	NM_182961.4(SYNE1):c.3670-14del	SYNE1	Deletion (intron variant)	Cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 1285045	NM_182961.4(SYNE1):c.2893-13C>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 195837	NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)	SYNE1 (R961Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1101375	NM_182961.4(SYNE1):c.2685G>A (p.Thr895=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 130431	NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys)	SYNE1 (R843C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 355934	NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile)	SYNE1 (V799I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GBenign/Likely benign
Select item 130417	NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)	SYNE1 (Q655R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

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Items: 47