"Genetic Services Laboratory, University of Chicago"[submitter] AND "L - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66888	NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)	LMNA, LOC129931597 (T10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy +20 more	GBenign/Likely benign
Select item 66765	NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)	LMNA, LOC129931597 (L35P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 959754	NM_170707.4(LMNA):c.151T>C (p.Ser51Pro)	LMNA (S51P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 66868	NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	LMNA (R62G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GPathogenic
Select item 48062	NM_170707.4(LMNA):c.357C>T (p.Arg119=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +17 more	GConflicting classifications of pathogenicity
Select item 48066	NM_170707.4(LMNA):c.438C>T (p.Ala146=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	LMNA-related condition +6 more	GBenign/Likely benign
Select item 435775	NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)	LMNA, LOC126805877	Deletion (inframe_indel)	Muscular dystrophy	GLikely pathogenic
Select item 200936	NM_170707.4(LMNA):c.471G>A (p.Thr157=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiomyopathy +14 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 163866	NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)	LMNA, LOC126805877 (R166Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B1 +16 more	GConflicting classifications of pathogenicity
Select item 66901	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LMNA, LOC126805877 (R166P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GPathogenic/Likely pathogenic
Select item 435768	NM_170707.4(LMNA):c.513+12C>A	LMNA, LOC126805877	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 48071	NM_170707.4(LMNA):c.612G>A (p.Leu204=)	LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +17 more	GBenign/Likely benign
Select item 48074	NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	LMNA (R225* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A +5 more	GPathogenic
Select item 14524	NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	LMNA (R249W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 66931	NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	LMNA (R249Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +8 more	GPathogenic/Likely pathogenic
Select item 435776	NM_170707.4(LMNA):c.790_792del (p.Glu264del)	LMNA (E264del +2 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1338321	NM_170707.4(LMNA):c.810+2T>C	LMNA	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 435766	NM_170707.4(LMNA):c.810+4C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 36480	NM_170707.4(LMNA):c.810+13G>T	LMNA	Single nucleotide variant (intron variant)	not provided +20 more	GBenign
Select item 48086	NM_170707.4(LMNA):c.811-13T>A	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +15 more	GBenign/Likely benign
Select item 435769	NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA (A278P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 435777	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Deletion (inframe_deletion)	Muscular dystrophy	GPathogenic
Select item 48088	NM_170707.4(LMNA):c.861T>C (p.Ala287=)	LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more	GBenign
Select item 66952	NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	LMNA (D300N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +2 more	GPathogenic/Likely pathogenic
Select item 66955	NM_170707.4(LMNA):c.908_909del (p.Ser303fs)	LMNA (S303fs +2 more)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 245950	NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)	LMNA (L306P +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +1 more	GLikely pathogenic
Select item 1058690	NM_170707.4(LMNA):c.937-7C>A	LMNA	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 292838	NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)	LMNA (R329S +2 more)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia +12 more	GUncertain significance
Select item 191702	NM_170707.4(LMNA):c.1017G>A (p.Ala339=)	LMNA	Single nucleotide variant (synonymous variant)	LMNA-related condition +6 more	GConflicting classifications of pathogenicity
Select item 66762	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA (R349W +2 more)	Single nucleotide variant (missense variant)	not provided +14 more	GConflicting classifications of pathogenicity
Select item 14525	NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	LMNA (E358K +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy +4 more	GPathogenic
Select item 66772	NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)	LMNA (E361K +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy +1 more	GPathogenic
Select item 66774	NM_170707.4(LMNA):c.1098G>A (p.Lys366=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 435770	NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	LMNA (I373F +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 14495	NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	LMNA (R377H +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 435778	NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)	LMNA (E385del +2 more)	Microsatellite (inframe_deletion)	Muscular dystrophy	GLikely pathogenic
Select item 435771	NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	LMNA (R388P +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy	GLikely pathogenic
Select item 211387	NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)	LMNA (R397C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 435772	NM_170707.4(LMNA):c.1235G>A (p.Gly412Glu)	LMNA (G412E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 66801	NM_170707.4(LMNA):c.1299C>T (p.His433=)	LMNA	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +14 more	GBenign/Likely benign
Select item 48037	NM_170707.4(LMNA):c.1338T>C (p.Asp446=)	LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +16 more	GBenign
Select item 14478	NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	LMNA (R453W +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GPathogenic/Likely pathogenic
Select item 14493	NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	LMNA (G465D +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1338284	NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp)	LMNA (N354D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 14489	NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	LMNA (R482W +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type +16 more	GPathogenic
Select item 14486	NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	LMNA (R482Q +2 more)	Single nucleotide variant (missense variant)	Laminopathy +17 more	GConflicting classifications of pathogenicity
Select item 66829	NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)	LMNA (K486N +2 more)	Single nucleotide variant (missense variant)	Familial partial lipodystrophy, Dunnigan type	GPathogenic
Select item 66833	NM_170707.4(LMNA):c.1488+5G>C	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 199111	NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +17 more	GConflicting classifications of pathogenicity
Select item 48043	NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	LMNA	Single nucleotide variant (synonymous variant)	not specified +16 more	GConflicting classifications of pathogenicity
Select item 66850	NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	LMNA (T528R +2 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +3 more	GPathogenic/Likely pathogenic
Select item 435773	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA (L530F +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 435767	NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu)	LMNA (G535E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 66856	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +7 more	GPathogenic/Likely pathogenic
Select item 66858	NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)	LMNA (M540T +2 more)	Single nucleotide variant (missense variant +1 more)	Hutchinson-Gilford syndrome	GPathogenic
Select item 66861	NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	LMNA (R541P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 48048	NM_170707.4(LMNA):c.1698C>T (p.His566=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Lethal tight skin contracture syndrome +16 more	GBenign
Select item 48049	NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	LMNA (R554H +2 more)	Single nucleotide variant (missense variant)	not specified +15 more	GConflicting classifications of pathogenicity
Select item 36477	NM_170707.4(LMNA):c.1761G>A (p.Leu587=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 48051	NM_170707.4(LMNA):c.1773C>T (p.Cys591=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 435774	NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)	LMNA (D566N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 14500	NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Hutchinson-Gilford syndrome +3 more	GPathogenic
Select item 48054	NM_170707.4(LMNA):c.1851C>T (p.Ala617=)	LMNA	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity

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Items: 65