ClinVar for MedGen (Select 346721) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374085	NM_016955.4(SEPSECS):c.388+5G>A	SEPSECS	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +7 more	GLikely pathogenic
Select item 373901	NM_001267550.2(TTN):c.30395A>G (p.His10132Arg)	TTN (H10132R +2 more)	Single nucleotide variant (missense variant +1 more)	Restrictive ventilatory defect +4 more	GUncertain significance
Select item 191910	NM_001267550.2(TTN):c.68824+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Spinal rigidity +5 more	GUncertain significance

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