C3278923[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374140	NM_001182.5(ALDH7A1):c.1566-1G>T	ALDH7A1	Single nucleotide variant (splice acceptor variant)	Ventriculomegaly +5 more	GPathogenic
Select item 17995	NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)	ALDH7A1 (R82* +1 more)	Single nucleotide variant (nonsense)	See cases +5 more	GPathogenic
Select item 3255	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1 (D606fs +10 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy, type C +10 more	GPathogenic
Select item 523310	GRCh37/hg19 14q24.3(chr14:76105695-76107636)	FLVCR2	Copy number loss	Ventriculomegaly +6 more	GUncertain significance
Select item 374124	NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	KIF7 (Y145S)	Single nucleotide variant (missense variant)	Male infertility due to gonadal dysgenesis or sperm disorder +8 more	GConflicting classifications of pathogenicity
Select item 161122	NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)	ATP1A3 (S137F +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 523561	NM_152424.4(AMER1):c.1911_1912del (p.Glu637fs)	AMER1 (E637fs)	Microsatellite (frameshift variant)	Myocarditis +3 more	GUncertain significance
Select item 374138	NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg)	MED12 (G1448R)	Single nucleotide variant (missense variant)	Microcephaly +6 more	GLikely pathogenic

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