ClinVar for MedGen (Select 1393733) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802587	NM_005215.4(DCC):c.[4009C>T;4210G>A]	DCC (R1337* +1 more)	Single nucleotide variant (nonsense +1 more)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GPathogenic
Select item 1255458	NM_005215.4(DCC):c.3130+10A>G	DCC	Single nucleotide variant (intron variant)	Mirror movements 1 +2 more	GBenign
Select item 1255457	NM_005215.4(DCC):c.3108T>C (p.Pro1036=)	DCC	Single nucleotide variant (synonymous variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2 +2 more	GBenign
Select item 1255456	NM_005215.4(DCC):c.2053+13A>G	DCC	Single nucleotide variant (intron variant)	Mirror movements 1 +1 more	GBenign
Select item 1255455	NM_005215.4(DCC):c.354G>A (p.Glu118=)	DCC	Single nucleotide variant (synonymous variant)	DCC-related disorder +2 more	GBenign
Select item 1255454	NM_005215.4(DCC):c.67T>C (p.Phe23Leu)	DCC (F23L)	Single nucleotide variant (missense variant)	Mirror movements 1 +1 more	GBenign
Select item 930503	NM_005215.4(DCC):c.769G>A (p.Ala257Thr)	DCC (A257T)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GUncertain significance
Select item 803493	NM_005215.4(DCC):c.601C>G (p.Arg201Gly)	DCC (R201G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 778536	NM_005215.4(DCC):c.2053+9T>C	DCC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 773345	NM_005215.4(DCC):c.1062C>T (p.Val354=)	DCC	Single nucleotide variant (synonymous variant)	Malignant tumor of esophagus +4 more	GBenign/Likely benign
Select item 719574	NM_005215.4(DCC):c.1256A>G (p.Lys419Arg)	DCC (K419R)	Single nucleotide variant (missense variant)	DCC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 714873	NM_005215.4(DCC):c.2158C>T (p.Leu720=)	DCC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 709096	NM_005215.4(DCC):c.91+7G>A	DCC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 446760	NM_005215.4(DCC):c.2071C>A (p.Gln691Lys)	DCC (Q691K)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GUncertain significance
Select item 446759	NM_005215.4(DCC):c.31_91+7622del	DCC	Deletion (splice donor variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GPathogenic
Select item 446724	NM_005215.4(DCC):c.788_794del (p.Val263fs)	DCC (V263fs)	Deletion (frameshift variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GPathogenic