C0678230[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523459	NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)	TFAP2A (K340fs +2 more)	Deletion (frameshift variant)	Hypertelorism +13 more	GPathogenic
Select item 523287	GRCh37/hg19 7q36.3(chr7:156656444-156866708)	LMBR1, MNX1 +1 more	Copy number gain	Abnormality of the pulmonary veins +8 more	GUncertain significance
Select item 523286	GRCh37/hg19 7q36.3(chr7:156333296-156556779)	LMBR1, RNF32	Copy number gain	Abnormality of the pulmonary veins +8 more	GUncertain significance
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 195928	NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)	MYH7 (E1223K)	Single nucleotide variant (missense variant)	Cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 374054	NM_001083962.2(TCF4):c.500-1G>A	TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome +7 more	GPathogenic
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

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