ClinVar for MedGen (Select 116097) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710344	NM_001368894.2(PAX6):c.142-3T>C	PAX6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1710336	NM_017780.4(CHD7):c.6045_6046del (p.Phe2015fs)	CHD7 (F2015fs)	Deletion (frameshift variant +1 more)	Iris coloboma	GPathogenic
Select item 523562	NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])	TMEM67	Duplication (inframe_insertion +1 more)	Nystagmus +3 more	GLikely pathogenic
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 506012	NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	TMEM67 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6 +11 more	GPathogenic/Likely pathogenic
Select item 446256	NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)	PRR12 (P304fs)	Duplication (frameshift variant)	Motor delay +5 more	GPathogenic
Select item 446255	NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)	PRR12 (L1501fs)	Deletion (frameshift variant)	Abnormality of vision +4 more	GPathogenic
Select item 446254	NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)	PRR12 (E640*)	Single nucleotide variant (nonsense)	Autism +5 more	GPathogenic

ClinVar