ClinVar for MedGen (Select 11209) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578021	NM_001354969.2(MDM1):c.1227dup (p.Lys410Ter)	MDM1 (K120* +5 more)	Duplication (nonsense)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 619170	NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys)	NEK9 (Y502C +1 more)	Single nucleotide variant (missense variant)	Retinopathy +1 more	GLikely benign
Select item 619169	NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)	NDC1 (C369Y +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +2 more	GUncertain significance
Select item 619168	NM_001128928.2(INPP1):c.70del (p.Gln24fs)	INPP1, LOC129935252 (Q24fs)	Deletion (frameshift variant)	Cleft palate +1 more	GUncertain significance
Select item 619134	NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu)	TENM4 (G519E)	Single nucleotide variant (missense variant)	Retinopathy +1 more	GLikely benign
Select item 449448	NM_025114.4(CEP290):c.4438-3del	CEP290	Deletion (intron variant)	Retinopathy +7 more	GConflicting classifications of pathogenicity
Select item 374183	NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	ABCA4 (T1726fs)	Duplication (frameshift variant)	Visual impairment +4 more	GPathogenic/Likely pathogenic
Select item 374182	NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)	ABCA4 (M2151I +1 more)	Single nucleotide variant (missense variant)	Visual impairment +3 more	GUncertain significance

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