"Ambry Genetics"[submitter] AND "LOC126805877"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1142681	NM_170707.4(LMNA):c.357-8T>C	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LOC126805877, LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more	GConflicting classifications of pathogenicity
Select item 2162192	NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)	LMNA, LOC126805877 (K10* +3 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 1113335	NM_170707.4(LMNA):c.366G>A (p.Lys122=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2587216	NM_170707.4(LMNA):c.369G>T (p.Lys123Asn)	LMNA, LOC126805877 (K123N +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 923835	NM_170707.4(LMNA):c.369G>A (p.Lys123=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +14 more	GLikely benign
Select item 760013	NM_170707.4(LMNA):c.372G>A (p.Glu124=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2567286	NM_170707.4(LMNA):c.383dup (p.Ala129fs)	LOC126805877, LMNA (A129fs +3 more)	Duplication (frameshift variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LMNA, LOC126805877 (R133Q +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford syndrome +14 more	GConflicting classifications of pathogenicity
Select item 48066	NM_170707.4(LMNA):c.438C>T (p.Ala146=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 222692	NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)	LMNA, LOC126805877 (T150A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48067	NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)	LOC126805877, LMNA (T150P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 228805	NM_170707.4(LMNA):c.449C>T (p.Thr150Ile)	LMNA, LOC126805877 (T150I +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 2771336	NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)	LMNA, LOC126805877 (L152P +3 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 200935	NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)	LMNA, LOC126805877 (R156C +2 more)	Single nucleotide variant (missense variant)	not provided +13 more	GUncertain significance
Select item 1172290	NM_170707.4(LMNA):c.467G>A (p.Arg156His)	LMNA, LOC126805877 (R156H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +16 more	GUncertain significance
Select item 1742460	NM_170707.4(LMNA):c.468C>T (p.Arg156=)	LMNA, LOC126805877	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1742586	NM_170707.4(LMNA):c.470C>A (p.Thr157Lys)	LMNA, LOC126805877 (T157K +3 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1039429	NM_170707.4(LMNA):c.470C>T (p.Thr157Met)	LMNA, LOC126805877 (T45M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 245861	NM_170707.4(LMNA):c.470C>G (p.Thr157Arg)	LMNA, LOC126805877 (T157R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 200936	NM_170707.4(LMNA):c.471G>A (p.Thr157=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to LMNA mutation +14 more	GConflicting classifications of pathogenicity
Select item 476830	NM_170707.4(LMNA):c.477G>A (p.Glu159=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1402379	NM_170707.4(LMNA):c.478G>C (p.Gly160Arg)	LMNA, LOC126805877 (G79R +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 519479	NM_170707.4(LMNA):c.480C>T (p.Gly160=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 14504	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA, LOC126805877 (E161K +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 499012	NM_170707.4(LMNA):c.483G>A (p.Glu161=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 574040	NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)	LMNA, LOC126805877 (R166W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +14 more	GConflicting classifications of pathogenicity
Select item 163866	NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)	LMNA, LOC126805877 (R166Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +16 more	GConflicting classifications of pathogenicity
Select item 66901	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LOC126805877, LMNA (R166P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GPathogenic/Likely pathogenic
Select item 285725	NM_170707.4(LMNA):c.498G>A (p.Arg166=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 245721	NM_170707.4(LMNA):c.513+1G>A	LMNA, LOC126805877	Single nucleotide variant (splice donor variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 518520	NM_170707.4(LMNA):c.513+2T>G	LMNA, LOC126805877	Single nucleotide variant (splice donor variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic

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Items: 32