C1853116[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 502164	NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)	ESR1, SYNE1 (T8743M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
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 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 1631770	NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +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)	not specified +4 more	GBenign/Likely benign
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 285646	NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala)	SYNE1 (E7498A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
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 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 288871	NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)	SYNE1 (G6476D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193775	NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)	SYNE1 (N6432S +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +5 more	GBenign/Likely benign
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 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 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 2326	NM_182961.4(SYNE1):c.15918-12A>G	SYNE1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
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 291213	NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr)	SYNE1 (A4897T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 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 497581	NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)	SYNE1 (V3968I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 470991	NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)	SYNE1 (T3810M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 198378	NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)	SYNE1 (K3714N +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +5 more	GBenign/Likely benign
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 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 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 290501	NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)	SYNE1 (P3364L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198335	NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)	SYNE1 (S3346Y +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +5 more	GBenign/Likely benign
Select item 198326	NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)	SYNE1 (S3318N +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
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 596074	NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)	SYNE1 (S3132G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GUncertain significance
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 282474	NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)	SYNE1 (E2183D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 577547	NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)	SYNE1 (E1751K +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 286464	NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)	SYNE1 (A1637V +1 more)	Single nucleotide variant (missense variant)	not provided +5 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)	Arthrogryposis multiplex congenita 3, myogenic type +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 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 130441	NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +5 more	GBenign/Likely benign
Select item 538393	NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln)	SYNE1 (R1051Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
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 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 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

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Items: 45