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

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174690	NM_182914.3(SYNE2):c.2647-3dup	SYNE2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 130495	NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu)	SYNE2 (I1187L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 283207	NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)	SYNE2 (R1393Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 286154	NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)	SYNE2 (Y1637C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 313509	NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)	SYNE2 (Y1638H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130506	NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu)	SYNE2 (A2347E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130507	NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly)	SYNE2 (S2359G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 197536	NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)	SYNE2 (E2388K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 130512	NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val)	SYNE2 (I2564V)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign
Select item 130518	NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp)	SYNE2 (E3026D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130456	NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln)	SYNE2 (K3523Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 130465	NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His)	SYNE2 (R4041H)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign/Likely benign
Select item 313574	NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)	SYNE2 (G4191D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 130467	NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr)	SYNE2 (I4209T)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign
Select item 282204	NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)	SYNE2 (P4225S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 130468	NM_182914.3(SYNE2):c.12840+8T>C	SYNE2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 130470	NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys)	SYNE2 (N4418K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130473	NM_182914.3(SYNE2):c.13423-7C>G	SYNE2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 313591	NM_182914.3(SYNE2):c.13707+10T>C	SYNE2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 130475	NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala)	SYNE2 (P4912A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign/Likely benign
Select item 198682	NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg)	SYNE2 (K4931R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 130481	NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala)	SYNE2 (V5265A)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +1 more	GBenign
Select item 285828	NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val)	SYNE2 (A5393V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 313627	NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn)	SYNE2 (D5547N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 130487	NM_182914.3(SYNE2):c.17556+4T>C	SYNE2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign
Select item 199247	NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro)	SYNE2 (L5854P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +2 more	GBenign/Likely benign
Select item 193771	NM_182914.3(SYNE2):c.18039-5T>A	SYNE2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2324	NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)	SYNE2 (T6211M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 283702	NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=)	SYNE2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 313653	NM_182914.3(SYNE2):c.19639A>G (p.Ile6547Val)	SYNE2 (I6547V +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 281670	NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)	SYNE2 (Q6655L +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 193953	NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr)	SYNE2 (A6671T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 282166	NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)	SYNE2 (R6706Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 193954	NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp)	SYNE2 (R6720W +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 193956	NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)	SYNE2 (D6804N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

ClinVar

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Items: 35