ClinVar (all) for Orgtrack (Select 506394) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 958620	NM_002382.5(MAX):c.179G>A (p.Arg60Gln)	MAX (R51Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 870442	NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys)	GRK1 (R438C)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870441	NM_002929.3(GRK1):c.55C>T (p.Arg19Ter)	GRK1 (R19*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GLikely pathogenic
Select item 870440	NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)	GRK1 (D537fs)	Deletion (frameshift variant)	Oguchi disease-2 +1 more	GPathogenic/Likely pathogenic
Select item 870439	NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs)	GRK1 (P517fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 870438	NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs)	GRK1 (P471fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 870437	NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter)	GRK1 (R393*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GLikely pathogenic
Select item 870436	NM_002929.3(GRK1):c.1138G>T (p.Val380Phe)	GRK1 (V380F)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870435	NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro)	GRK1 (A377P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870434	NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys)	GRK1 (E362K)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870433	NM_002929.3(GRK1):c.971del (p.Leu324fs)	GRK1 (L324fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 870432	NM_002929.3(GRK1):c.923T>C (p.Leu308Pro)	GRK1 (L308P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870431	NM_002929.3(GRK1):c.827+625_883del	GRK1	Deletion (splice acceptor variant)	Oguchi disease-2	GLikely pathogenic
Select item 870430	NM_002929.3(GRK1):c.614C>A (p.Ser205Ter)	GRK1 (S205*)	Single nucleotide variant (nonsense)	Oguchi disease-2	GLikely pathogenic
Select item 870429	NM_002929.3(GRK1):c.595G>C (p.Gly199Arg)	GRK1 (G199R)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870428	NM_002929.3(GRK1):c.470T>C (p.Leu157Pro)	GRK1 (L157P)	Single nucleotide variant (missense variant)	Oguchi disease-2	GLikely pathogenic
Select item 870427	NM_002929.3(GRK1):c.142_145del (p.Glu48fs)	GRK1 (E48fs)	Deletion (frameshift variant)	Oguchi disease-2	GLikely pathogenic
Select item 636033	NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter)	GRK1 (Q462*)	Single nucleotide variant (nonsense)	Oguchi disease-2 +1 more	GLikely pathogenic
Select item 446253	NM_201253.3(CRB1):c.1431del (p.Ser478fs)	CRB1 (S409fs +2 more)	Deletion (frameshift variant +1 more)	Macular dystrophy +3 more	GPathogenic
Select item 446252	NM_201253.3(CRB1):c.4141C>A (p.Pro1381Thr)	CRB1 (P1381T +3 more)	Single nucleotide variant (missense variant +1 more)	Macular dystrophy	GPathogenic
Select item 265083	NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	CRB1 (C195F +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +5 more	GPathogenic/Likely pathogenic
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Macular dystrophy +6 more	GPathogenic
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	CRB1-related maculopathy +11 more	GConflicting classifications of pathogenicity
Select item 13012	NM_002929.3(GRK1):c.1172C>A (p.Pro391His)	GRK1 (P391H)	Single nucleotide variant (missense variant)	Oguchi disease-2	GPathogenic/Likely pathogenic
Select item 13010	NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)	GRK1 (V380D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related maculopathy +9 more	GPathogenic/Likely pathogenic

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Items: 26