"Baylor Genetics"[submitter] AND "SMC1A"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441999	NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)	SMC1A (R1044S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 532569	NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	SMC1A (R1035* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic/Likely pathogenic
Select item 208626	NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)	SMC1A (S951fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic
Select item 209192	NM_006306.4(SMC1A):c.2547del (p.Ile849fs)	SMC1A (I849fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 523210	NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	SMC1A (R785H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 523209	NM_006306.4(SMC1A):c.2394dup (p.Arg799fs)	SMC1A (R777fs +1 more)	Duplication (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 1029034	NM_006306.4(SMC1A):c.1911+7A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity
Select item 2582425	NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr)	SMC1A (H614Y +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2582663	NM_006306.4(SMC1A):c.1546-2A>C	SMC1A	Single nucleotide variant (splice acceptor variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 11675	NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	SMC1A (R496H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 588589	NM_006306.4(SMC1A):c.1254+4G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GConflicting classifications of pathogenicity
Select item 523213	NM_006306.4(SMC1A):c.1114-2A>G	SMC1A	Single nucleotide variant (splice acceptor variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 180197	NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)	SMC1A (K268del +1 more)	Microsatellite (inframe_deletion)	Congenital muscular hypertrophy-cerebral syndrome +6 more	GPathogenic
Select item 523208	NM_006306.4(SMC1A):c.655del (p.Ala219fs)	SMC1A (A219fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 159961	NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	SMC1A (R196C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity
Select item 523207	NM_006306.4(SMC1A):c.298G>C (p.Gly100Arg)	SMC1A (G100R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1032427	NM_006306.4(SMC1A):c.157dup (p.Thr53fs)	SMC1A (T31fs +1 more)	Duplication (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 523206	NM_006306.4(SMC1A):c.140T>G (p.Phe47Cys)	SMC1A (F25C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 523205	NM_006306.4(SMC1A):c.128A>T (p.Asp43Val)	SMC1A (D21V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 374391	NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter)	SMC1A (S17* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 523204	NM_006306.4(SMC1A):c.110G>T (p.Gly37Val)	SMC1A (G15V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic

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Items: 21