C0339535[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinal dystrophy +22 more	GPathogenic
Select item 437970	NM_000843.4(GRM6):c.577del (p.Val193fs)	GRM6 (V193fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 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 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 31204	NM_001004334.4(GPR179):c.984del (p.Ser329fs)	GPR179 (S329fs)	Deletion (frameshift variant)	Congenital stationary night blindness +4 more	GPathogenic
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 438057	NM_001378477.3(NYX):c.977TCTTCC[1] (p.326LF[1])	NYX	Microsatellite (inframe_deletion)	Congenital stationary night blindness	GLikely pathogenic
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 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 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 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

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Items: 28