ClinVar for MedGen (Select 137901) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812673	NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)	ATOH7 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812672	NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr)	ATOH7 (A59T)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia +1 more	GPathogenic
Select item 522175	NM_057157.2:c.1184T>C	CYP26A1	Single nucleotide variant	Optic nerve hypoplasia	GUncertain significance
Select item 496734	NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)	COL4A2 (G729R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 496733	NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro)	CYP26C1 (Q119P)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia	GLikely benign
Select item 496732	NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)	CYP26C1 (Q284fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 496727	Single allele	LOC132090076, SOX5	Deletion	Optic nerve hypoplasia	GPathogenic
Select item 496688	NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)	UBE3B (A988T)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 496641	NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)	COL4A1 (G948S)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia	GPathogenic
Select item 496637	NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr)	COL4A1 (P484T)	Single nucleotide variant (missense variant)	Optic nerve hypoplasia	GUncertain significance
Select item 424800	NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]			Hereditary spastic paraplegia 7	GLikely pathogenic
Select item 374155	NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer)	HERC2	Deletion (nonsense)	Optic nerve hypoplasia +7 more	GPathogenic
Select item 311195	NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)	COL4A2 (G1663S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311138	NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)	COL4A2 (P650S)	Single nucleotide variant (missense variant)	Porencephaly 2 +2 more	GConflicting classifications of pathogenicity
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Gastrostomy tube feeding in infancy +28 more	GUncertain significance
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	Pectus excavatum +14 more	GPathogenic
Select item 196327	NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)	COL4A1 (P54L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 50866	NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	OPA1 (I437M +8 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +7 more	GConflicting classifications of pathogenicity
Select item 42016	NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SPG7 (A510V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 7 +11 more	GPathogenic/Likely pathogenic