ClinVar for MedGen (Select 83289) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238743	NM_176820.4(NLRP9):c.796C>T (p.Leu266Phe)	NLRP9 (L266F)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GUncertain significance
Select item 1519943	NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln)	RLBP1 (R121Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1213964	NM_145200.5(CABP4):c.619_633dup (p.Gly207_Leu211dup)	CABP4	Duplication (inframe_insertion +1 more)	Congenital stationary night blindness	GUncertain significance
Select item 852296	NM_000843.4(GRM6):c.2041C>T (p.Gln681Ter)	GRM6, ZNF454 (Q681*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +1 more	GPathogenic/Likely pathogenic
Select item 834861	NM_000539.3(RHO):c.209C>T (p.Thr70Met)	RHO (T70M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813026	NM_001256789.3(CACNA1F):c.1118+1G>C	CACNA1F	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 812435	NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)	TRPM1 (K294* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 812434	NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)	TRPM1 (W856* +2 more)	Single nucleotide variant (nonsense)	TRPM1-related disorder	GPathogenic
Select item 812362	NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)	NYX (A422fs +1 more)	Duplication (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 812361	NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)	NYX (V352fs)	Microsatellite (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 812360	NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)	NYX (C340G +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812359	NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)	NYX (L266P +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GPathogenic
Select item 812358	NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)	NYX (A166P +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812357	NM_001378477.3(NYX):c.335T>A (p.Leu112Gln)	NYX (L117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812252	NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs)	CACNA1F (A65fs)	Duplication (frameshift variant +1 more)	Congenital stationary night blindness	GPathogenic
Select item 812249	NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)	CACNA1F (F742C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812248	NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)	CACNA1F (E824* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 812247	NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs)	CACNA1F (C925fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 812246	NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	CACNA1F (W1318* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +1 more	GPathogenic
Select item 812245	NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)	CACNA1F (R1297* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 812244	NM_001256789.3(CACNA1F):c.4261-9G>A	CACNA1F	Single nucleotide variant (intron variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812243	NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)	CACNA1F (G1431E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 810596	NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)	CACNA1F (S1791F +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness +1 more	GConflicting classifications of pathogenicity
Select item 636227	NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val)	USH2A (A3603V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636219	NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro)	GRM6, ZNF454 (L668P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 636174	NM_000843.4(GRM6):c.527C>T (p.Ser176Phe)	GRM6 (S176F)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GUncertain significance
Select item 636061	NM_000283.4(PDE6B):c.293G>A (p.Arg98His)	PDE6B (R98H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 624415	NM_001256789.3(CACNA1F):c.2086-2A>G	CACNA1F	Single nucleotide variant (splice acceptor variant)	Congenital stationary night blindness +1 more	GPathogenic/Likely pathogenic
Select item 593857	NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)	TRPM1 (R877* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 560516	NM_206933.2(USH2A):c.[2299del;4714C>T]	USH2A (E767fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 2A	GPathogenic
Select item 505393	NM_001004334.4(GPR179):c.2706_2707dup (p.Pro903fs)	GPR179 (P903fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 441099	NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs)	GRM6, ZNF454 (A738fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438222	NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)	TRPM1 (G256R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438221	NM_001252024.2(TRPM1):c.618+3_618+6del	TRPM1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 438220	NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)	TRPM1 (G105E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438219	NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs)	TRPM1 (W1050fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 438218	NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)	TRPM1 (D1036E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438217	NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)	TRPM1 (C1030Y +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438146	NM_001034853.2(RPGR):c.633del (p.Tyr212fs)	RPGR (Y212fs +2 more)	Deletion (frameshift variant +1 more)	Congenital stationary night blindness	GLikely pathogenic
Select item 438129	NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)	CACNA1F (F318del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic/Likely pathogenic
Select item 438128	NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter)	CACNA1F (R262* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438127	NM_001256789.3(CACNA1F):c.4439C>T (p.Pro1480Leu)	CACNA1F (P1491L +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438124	NM_001256789.3(CACNA1F):c.3308_3309del (p.Ser1103fs)	CACNA1F (S1114fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438123	NM_001256789.3(CACNA1F):c.3180T>G (p.Asn1060Lys)	CACNA1F (N1071K +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438122	NM_001256789.3(CACNA1F):c.2733+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438121	NM_001256789.3(CACNA1F):c.1505_1509del (p.Arg502fs)	CACNA1F (R448fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438120	NM_001256789.3(CACNA1F):c.1433_1463+7del	CACNA1F	Deletion (splice donor variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438119	NM_001256789.3(CACNA1F):c.1305_1306insT (p.Arg436Ter)	CACNA1F (R447* +2 more)	Insertion (nonsense)	Congenital stationary night blindness	GLikely pathogenic
Select item 438118	NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs)	CACNA1F (W407fs +1 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 438106	NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)	ABCA4 (K2076E +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438093	NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	ABCA4 (E1087* +1 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 438057	NM_001378477.3(NYX):c.977TCTTCC[1] (p.326LF[1])	NYX	Microsatellite (inframe_deletion)	Congenital stationary night blindness	GLikely pathogenic
Select item 437970	NM_000843.4(GRM6):c.577del (p.Val193fs)	GRM6 (V193fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 437969	NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del)	GRM6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 437963	NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del)	RBP3 (F278del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 290045	NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)	TRPM1 (I1002F +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 286815	NC_000017.11:g.38339517_38339521delinsGTAGATCA	GPR179	Indel	Congenital stationary night blindness +1 more	GPathogenic/Likely pathogenic
Select item 225502	NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 31204	NM_001004334.4(GPR179):c.984del (p.Ser329fs)	GPR179 (S329fs)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic
Select item 11617	NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)	CACNA1F (R830* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +2 more	GPathogenic
Select item 11615	NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)	CACNA1F (R958* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 8005	NM_002905.5(RDH5):c.839G>A (p.Arg280His)	BLOC1S1-RDH5, CD63 +1 more (R280H)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital stationary night blindness +2 more	GPathogenic/Likely pathogenic
Select item 8003	NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	BLOC1S1-RDH5, CD63 +1 more (G238W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5844	NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)	GRM6 (P46L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa +22 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 66