CN239184[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292823	NM_005572.3(LMNA):c.-226C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal tight skin contracture syndrome +10 more	GUncertain significance
Select item 292824	NM_005572.3(LMNA):c.-225C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Mandibuloacral dysplasia +9 more	GUncertain significance
Select item 874656	NM_005572.3(LMNA):c.-223C>T	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Familial partial lipodystrophy, Dunnigan type +10 more	GConflicting classifications of pathogenicity
Select item 292825	NM_005572.3(LMNA):c.-210T>C	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Lethal tight skin contracture syndrome +10 more	GUncertain significance
Select item 292826	NM_170707.4(LMNA):c.-183C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292827	NM_170707.4(LMNA):c.-142C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292828	NM_170707.4(LMNA):c.-138T>C	LMNA	Single nucleotide variant (5 prime UTR variant)	Congenital muscular dystrophy due to LMNA mutation +10 more	GUncertain significance
Select item 292829	NM_170707.4(LMNA):c.-128T>C	LMNA	Single nucleotide variant (5 prime UTR variant)	Congenital muscular dystrophy due to LMNA mutation +10 more	GLikely benign
Select item 292830	NM_170707.4(LMNA):c.-109G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292831	NM_170707.4(LMNA):c.-88G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +12 more	GBenign/Likely benign
Select item 292832	NM_170707.4(LMNA):c.-62C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 873801	NM_170707.4(LMNA):c.-44T>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 292833	NM_170707.4(LMNA):c.-5C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
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 292834	NM_170707.4(LMNA):c.294G>A (p.Glu98=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 292835	NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	LMNA (R99S)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy +12 more	GConflicting classifications of pathogenicity
Select item 48063	NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	LMNA (K117R)	Single nucleotide variant (missense variant)	not specified +13 more	GConflicting classifications of pathogenicity
Select item 875747	NM_170707.4(LMNA):c.356+12C>A	LMNA	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
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 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LOC126805877, LMNA (R133Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +14 more	GConflicting classifications of pathogenicity
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 292836	NM_170707.4(LMNA):c.514-11C>T	LMNA	Single nucleotide variant (intron variant)	not provided +12 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 48078	NM_170707.4(LMNA):c.749C>T (p.Ala250Val)	LMNA (A250V +2 more)	Single nucleotide variant (missense variant)	not specified +20 more	GUncertain significance/Uncertain risk allele
Select item 874034	NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)	LMNA (T154A +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy +9 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 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 292837	NM_170707.4(LMNA):c.936+12C>T	LMNA	Single nucleotide variant (intron variant)	Mandibuloacral dysplasia +12 more	GConflicting classifications of pathogenicity
Select item 222694	NM_170707.4(LMNA):c.937-8C>A	LMNA	Single nucleotide variant (intron variant)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 586129	NM_170707.4(LMNA):c.953C>T (p.Ala318Val)	LMNA (A318V +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +14 more	GUncertain significance/Uncertain risk allele
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 224680	NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)	LMNA (R329G +2 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy +11 more	GUncertain significance/Uncertain risk allele
Select item 656550	NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	LMNA (R231W +2 more)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +20 more	GConflicting classifications of pathogenicity
Select item 66780	NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	LMNA	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy +16 more	GConflicting classifications of pathogenicity
Select item 698186	NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	LMNA	Single nucleotide variant (synonymous variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +14 more	GConflicting classifications of pathogenicity
Select item 519022	NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	LMNA (V442M +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +14 more	GConflicting classifications of pathogenicity
Select item 876083	NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	LMNA (D334E +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GUncertain significance
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 570103	NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	LMNA (R453Q +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +13 more	GConflicting classifications of pathogenicity
Select item 14490	NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)	LMNA (R482L +2 more)	Single nucleotide variant (missense variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +9 more	GUncertain significance
Select item 245964	NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	LMNA (T496M +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +18 more	GConflicting classifications of pathogenicity
Select item 292839	NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	LMNA	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +16 more	GConflicting classifications of pathogenicity
Select item 178061	NM_170707.4(LMNA):c.1488+14C>T	LMNA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1A +14 more	GConflicting classifications of pathogenicity
Select item 242003	NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	LMNA (H506P +2 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +20 more	GUncertain significance
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 48044	NM_170707.4(LMNA):c.1584G>A (p.Thr528=)	LMNA	Single nucleotide variant (synonymous variant)	not specified +17 more	GBenign/Likely benign
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +24 more	GConflicting classifications of pathogenicity
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 292840	NM_170707.4(LMNA):c.1698+57G>A	LMNA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy due to LMNA mutation +10 more	GConflicting classifications of pathogenicity
Select item 875382	NM_170707.4(LMNA):c.1698+83G>A	LMNA	Single nucleotide variant (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +9 more	GUncertain significance
Select item 368833	NM_170707.4(LMNA):c.1698+124C>T	LMNA	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GUncertain significance

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Items: 53