ClinVar for MedGen (Select 2473) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804042	NM_144643.4(SCLT1):c.1043del (p.Ser348fs)	SCLT1 (S348fs)	Deletion (frameshift variant)	Astigmatism +5 more	GPathogenic
Select item 1804041	NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)	SCLT1 (N687fs)	Duplication (frameshift variant)	Astigmatism +5 more	GLikely pathogenic
Select item 1804007	NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)	MCM7 (Q45*)	Single nucleotide variant (5 prime UTR variant +1 more)	Astigmatism +8 more	GPathogenic
Select item 1684521	NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter)	ZBTB10 (R156*)	Single nucleotide variant (nonsense +1 more)	Thin vermilion border +7 more	GUncertain significance
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1330190	GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1	ACTB, FBXL18 +5 more	Copy number loss	Autistic behavior +4 more	GPathogenic
Select item 1173069	NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	MCM7 (G259A +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +9 more	GPathogenic
Select item 523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS, PHF3 (E2840G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Color vision defect +11 more	GUncertain significance
Select item 523398	NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)	SLC9A6 (A449E +3 more)	Single nucleotide variant (missense variant)	Astigmatism +12 more	GUncertain significance
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
Select item 523273	GRCh37/hg19 22q11.21(chr22:18894835-20311763)	DGCR6L, DGCR8 +27 more	Copy number loss	Velopharyngeal insufficiency +8 more	GPathogenic
Select item 373930	NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)	GRIN2B (D668N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 242882	NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)	ANKRD11 (E1773*)	Single nucleotide variant (nonsense)	Cryptorchidism +9 more	GPathogenic