C3495498[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180582	NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	LOC129935184, TTN +1 more (S35172del +5 more)	Deletion (inframe_deletion)	Hypertrophic cardiomyopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 45733	NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	LOC129999660, PRKAG2 (A233G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 43064	NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)	MYH7 (R1781H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance FDA Recognized database
Select item 36642	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	LOC126861897, MHRT +1 more (R1712Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 43012	NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)	MHRT, MYH7 (K1459N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign FDA Recognized database
Select item 179656	NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)	MYH7 (E1205K)	Single nucleotide variant (missense variant)	MYH7-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 177826	NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)	MYH7 (R1079Q)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 417718	NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	LOC126861898, MYH7 (M877I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +3 more	GConflicting classifications of pathogenicity
Select item 14120	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	LOC126861898, MYH7 (R870H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GPathogenic FDA Recognized database
Select item 164324	NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	LOC126861898, MYH7 (R858C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 164350	NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	MYH7 (R671C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 181402	NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)	MYH7 (D309N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 930530	NM_033118.4(MYLK2):c.1402A>G (p.Met468Val)	MYLK2 (M468V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GUncertain significance