ClinVar for MedGen (Select 1790414) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066032	NM_020719.3(PRR12):c.3355C>T (p.Arg1119Trp)	PRR12 (R1119W)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GUncertain significance
Select item 3065991	NM_020719.3(PRR12):c.1205del (p.Gly402fs)	PRR12 (G402fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 3061967	NM_020719.3(PRR12):c.521del (p.Pro174fs)	PRR12 (P174fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 2689832	NM_020719.3(PRR12):c.2405T>A (p.Leu802His)	PRR12 (L802H)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GUncertain significance
Select item 2687488	NM_020719.3(PRR12):c.1549_1568del (p.Pro517fs)	PRR12 (P517fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 2571626	NM_020719.3(PRR12):c.922_923del (p.His308fs)	PRR12 (H308fs)	Deletion (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 2505234	NM_020719.3(PRR12):c.3950_3951del (p.Val1317fs)	PRR12 (V1317fs)	Microsatellite (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 2442383	NM_020719.3(PRR12):c.1345C>T (p.Gln449Ter)	PRR12 (Q449*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 2435263	NM_020719.3(PRR12):c.577C>G (p.Pro193Ala)	PRR12 (P193A)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GUncertain significance
Select item 2432862	NM_020719.3(PRR12):c.3404C>A (p.Ser1135Ter)	PRR12 (S1135*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 2429082	NM_020719.3(PRR12):c.2218G>T (p.Glu740Ter)	PRR12 (E740*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 1727056	NM_020719.3(PRR12):c.1146del (p.Ile383fs)	PRR12 (I383fs)	Deletion (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1707516	NM_020719.3(PRR12):c.656_657del (p.Leu219fs)	PRR12 (L219fs)	Microsatellite (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1705305	NM_020719.3(PRR12):c.3959_3978del (p.Arg1320fs)	PRR12 (R1320fs)	Deletion (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1701759	NM_020719.3(PRR12):c.2680_2695dup (p.Val899fs)	PRR12 (V899fs)	Duplication (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 1687383	NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter)	PRR12 (R1209*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GConflicting classifications of pathogenicity
Select item 1676831	NM_020719.3(PRR12):c.3958C>T (p.Arg1320Ter)	PRR12 (R1320*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 1676830	NM_020719.3(PRR12):c.1521T>G (p.Tyr507Ter)	PRR12 (Y507*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GPathogenic
Select item 1676829	NM_020719.3(PRR12):c.1232C>A (p.Ser411Ter)	PRR12 (S411*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 1526075	NM_020719.3(PRR12):c.2831_2832dup (p.Ser945fs)	PRR12 (S945fs)	Microsatellite (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1333589	NM_020719.3(PRR12):c.2247C>G (p.Tyr749Ter)	PRR12 (Y749*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 1328159	NM_020719.3(PRR12):c.4787C>T (p.Thr1596Met)	PRR12 (T1596M)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GUncertain significance
Select item 1285640	NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)	PRR12 (L1970P)	Single nucleotide variant (missense variant)	Neuroocular syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1285639	NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp)	PRR12 (R1169W)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1013597	NM_020719.3(PRR12):c.790C>T (p.Gln264Ter)	PRR12 (Q264*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 1013594	NM_020719.3(PRR12):c.2755C>T (p.Gln919Ter)	PRR12 (Q919*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 1013592	NM_020719.3(PRR12):c.3273del (p.Lys1092fs)	PRR12 (K1092fs)	Deletion (frameshift variant)	Neuroocular syndrome +1 more	GPathogenic
Select item 446256	NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)	PRR12 (P304fs)	Duplication (frameshift variant)	Motor delay +5 more	GPathogenic
Select item 446254	NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)	PRR12 (E640*)	Single nucleotide variant (nonsense)	Autism +5 more	GPathogenic

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Items: 29