"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC129931597 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408991	NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)	LMNA, LOC129931597 (R7Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 864820	NM_170707.4(LMNA):c.23G>A (p.Arg8His)	LMNA, LOC129931597 (R8H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 919987	NM_170707.4(LMNA):c.24C>A (p.Arg8=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2140137	NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)	LMNA, LOC129931597 (A9T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 2720984	NM_170707.4(LMNA):c.39G>A (p.Gly13=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 519518	NM_170707.4(LMNA):c.42G>A (p.Ala14=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 36479	NM_170707.4(LMNA):c.51C>T (p.Ser17=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +20 more	GBenign/Likely benign
Select item 644974	NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)	LMNA, LOC129931597 (T24S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 2773532	NM_170707.4(LMNA):c.72C>G (p.Thr24=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy	GLikely benign
Select item 245817	NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)	LMNA, LOC129931597 (R25L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 2773533	NM_170707.4(LMNA):c.76A>C (p.Ile26Leu)	LMNA, LOC129931597 (I26L)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 48083	NM_170707.4(LMNA):c.78C>T (p.Ile26=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 242006	NM_170707.4(LMNA):c.93G>A (p.Glu31=)	LOC129931597, LMNA	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 543256	NM_170707.4(LMNA):c.96G>A (p.Lys32=)	LMNA, LOC129931597	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +14 more	GLikely benign