ClinVar for MedGen (Select 3938) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523526	NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)	TNXB (V2117fs)	Deletion (frameshift variant)	Cyanosis +6 more	GUncertain significance
Select item 523525	NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)	TNXB (D1684E)	Single nucleotide variant (missense variant)	Cyanosis +7 more	GUncertain significance
Select item 375378	NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)	DNAH7 (F3585L)	Single nucleotide variant (missense variant)	Abnormal muscle tone +4 more	GPathogenic
Select item 374186	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND (S259fs +3 more)	Deletion (frameshift variant)	Ptosis +3 more	GLikely pathogenic
Select item 374185	NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)	CHRND (W462L +3 more)	Single nucleotide variant (missense variant)	Ptosis +3 more	GLikely pathogenic
Select item 179656	NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)	MYH7 (E1205K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 155808	NM_000256.3(MYBPC3):c.3190+5G>A	MYBPC3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +12 more	GPathogenic/Likely pathogenic

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