Related gene-specific medical variations for Gene (Select 8243) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064823	NM_006306.4(SMC1A):c.109+589_109+590del	SMC1A (Y12fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GUncertain significance
Select item 3064087	NM_006306.4(SMC1A):c.1301G>A (p.Arg434Gln)	SMC1A (R412Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GUncertain significance
Select item 3062286	NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)	SMC1A (Y589* +1 more)	Duplication (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 2963974	NM_006306.4(SMC1A):c.1732-6C>T	MIR6857, SMC1A	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
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 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 2436143	NM_006306.4(SMC1A):c.3539G>C (p.Cys1180Ser)	SMC1A (C1158S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029764	NM_006306.4(SMC1A):c.1732-7C>A	MIR6857, SMC1A	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1700232	NM_006306.4(SMC1A):c.2122del (p.Leu708fs)	SMC1A (L686fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 1559957	NM_006306.4(SMC1A):c.1732-19A>G	MIR6857, SMC1A	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1323620	NM_006306.4(SMC1A):c.2069del (p.Lys690fs)	SMC1A (K668fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1319252	NM_006306.4(SMC1A):c.597A>G (p.Ala199=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1184942	NM_006306.4(SMC1A):c.1813_1814del (p.Ile605fs)	SMC1A (I583fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1184529	NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter)	SMC1A (Q1039* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 994973	NM_006306.4(SMC1A):c.1289A>T (p.Glu430Val)	SMC1A (E408V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930836	NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del)	SMC1A (K1064del +1 more)	Microsatellite (inframe_deletion)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 930332	NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)	SMC1A (K362E +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 810623	NM_006306.4(SMC1A):c.52_53del (p.Arg18fs)	SMC1A (R18fs)	Deletion (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 562395	NM_006306.4(SMC1A):c.855-2A>G	SMC1A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 545098	NM_006306.4(SMC1A):c.1732-2A>G	MIR6857, SMC1A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 259962	NM_006306.4(SMC1A):c.2973+45G>A	SMC1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 154501	GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3	SMC1A	Copy number gain	See cases	GUncertain significance
Select item 154500	GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4	SMC1A	Copy number gain	See cases	GUncertain significance
Select item 154447	GRCh38/hg38 Xp11.22(chrX:53397800-53403846)x1	SMC1A	Copy number loss	See cases	GUncertain significance
Select item 29930	SMC1A, 8.152-KB DEL	SMC1A	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic

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Links from Gene

Items: 25