C1449563[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 200936	NM_170707.4(LMNA):c.471G>A (p.Thr157=)	LMNA, LOC126805877	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +14 more	GConflicting classifications of pathogenicity
Select item 48078	NM_170707.4(LMNA):c.749C>T (p.Ala250Val)	LMNA (A250V +2 more)	Single nucleotide variant (missense variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +20 more	GUncertain significance/Uncertain risk allele
Select item 36480	NM_170707.4(LMNA):c.810+13G>T	LMNA	Single nucleotide variant (intron variant)	Cardiovascular phenotype +20 more	GBenign
Select item 586129	NM_170707.4(LMNA):c.953C>T (p.Ala318Val)	LMNA (A318V +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +13 more	GUncertain significance/Uncertain risk allele
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)	Emery-Dreifuss muscular dystrophy +20 more	GConflicting classifications of pathogenicity
Select item 698186	NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	LMNA	Single nucleotide variant (synonymous variant)	not provided +14 more	GConflicting classifications of pathogenicity
Select item 245964	NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	LMNA (T496M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +18 more	GConflicting classifications of pathogenicity
Select item 178061	NM_170707.4(LMNA):c.1488+14C>T	LMNA	Single nucleotide variant (intron variant)	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules +14 more	GConflicting classifications of pathogenicity
Select item 48043	NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	LMNA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +16 more	GConflicting classifications of pathogenicity
Select item 48044	NM_170707.4(LMNA):c.1584G>A (p.Thr528=)	LMNA	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Recessive +17 more	GBenign/Likely benign