C5393312[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1085983	NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 522900	NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu)	SMC1A (D1134E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more	GUncertain significance
Select item 1609877	NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 159957	NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +4 more	GBenign/Likely benign
Select item 760985	NM_006306.4(SMC1A):c.3438-7C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +3 more	GBenign/Likely benign
Select item 1590961	NM_006306.4(SMC1A):c.3438-18C>T	SMC1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GBenign/Likely benign
Select item 373969	NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)	SMC1A (Q972R +1 more)	Single nucleotide variant (missense variant)	Pectus excavatum +10 more	GUncertain significance
Select item 582909	NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg)	SMC1A (Q909R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GUncertain significance
Select item 590064	NM_006306.4(SMC1A):c.2646G>A (p.Ser882=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GLikely benign
Select item 1126103	NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1632889	NM_006306.4(SMC1A):c.2562+17T>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 159947	NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	SMC1A (R711W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1593221	NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 764190	NM_006306.4(SMC1A):c.2059-9T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1582927	NM_006306.4(SMC1A):c.1912-14C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 1582009	NM_006306.4(SMC1A):c.1911+12C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 159943	NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +4 more	GBenign/Likely benign
Select item 1108486	NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1326800	NM_006306.4(SMC1A):c.1545+5G>A	SMC1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more	GUncertain significance
Select item 1406869	NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln)	SMC1A (R446Q +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 198840	NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 368589	NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)	SMC1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +3 more	GBenign/Likely benign
Select item 448420	NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GLikely benign
Select item 1132678	NM_006306.4(SMC1A):c.951G>A (p.Lys317=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 757494	NM_006306.4(SMC1A):c.915C>T (p.Thr305=)	SMC1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1598894	NM_006306.4(SMC1A):c.854+17G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 167707	NM_006306.4(SMC1A):c.699G>A (p.Val233=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +4 more	GBenign/Likely benign
Select item 159963	NM_006306.4(SMC1A):c.616-6G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +3 more	GBenign/Likely benign
Select item 657285	NM_006306.4(SMC1A):c.494C>T (p.Ala165Val)	SMC1A (A143V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GUncertain significance
Select item 1086400	NM_006306.4(SMC1A):c.429T>C (p.Ile143=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 793222	NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)	SMC1A (L102F +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1217963	NM_006306.4(SMC1A):c.298+19A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GBenign/Likely benign
Select item 1597240	NM_006306.4(SMC1A):c.109+13T>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign

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Items: 33