ClinVar for MedGen (Select 1762595) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068451	NM_012154.5(AGO2):c.1807G>A (p.Ala603Thr)	AGO2 (A603T)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3066282	NM_012154.5(AGO2):c.1789G>C (p.Asp597His)	AGO2 (D597H)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3065314	NM_012154.5(AGO2):c.1577C>T (p.Thr526Met)	AGO2 (T526M)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 3064546	NM_012154.5(AGO2):c.1019C>A (p.Pro340His)	AGO2, LOC126860544 (P340H)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 3061866	NM_012154.5(AGO2):c.2461G>A (p.Glu821Lys)	AGO2 (E787K +1 more)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 2690857	NM_012154.5(AGO2):c.1870C>T (p.Arg624Cys)	AGO2 (R624C)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 2580206	NM_012154.5(AGO2):c.267T>A (p.Asp89Glu)	AGO2 (D89E)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 2506386	NM_012154.5(AGO2):c.1015C>T (p.Leu339Phe)	AGO2, LOC126860544 (L339F)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely benign
Select item 2438919	NM_012154.5(AGO2):c.1889G>A (p.Arg630His)	AGO2 (R630H)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1992346	NM_012154.5(AGO2):c.2389G>A (p.Val797Met)	AGO2 (V763M +1 more)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 1803264	NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)	AGO2 (L540P)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 1701673	NM_012154.5(AGO2):c.337-7C>T	AGO2	Single nucleotide variant (intron variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1696492	NM_012154.5(AGO2):c.899G>A (p.Ser300Asn)	AGO2, LOC126860544 (S300N)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1687559	NM_012154.5(AGO2):c.586C>T (p.Arg196Ter)	AGO2, LOC126860545 (R196*)	Single nucleotide variant (nonsense)	Lessel-Kreienkamp syndrome	GUncertain significance
Select item 1328183	NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg)	AGO2 (G604R)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GLikely pathogenic
Select item 1325742	NM_012154.5(AGO2):c.602G>T (p.Gly201Val)	AGO2, LOC126860545 (G201V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995796	NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg)	AGO2 (G733R)	Single nucleotide variant (missense variant +1 more)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995795	NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del)	AGO2, LOC126860545 (F182del)	Microsatellite (inframe_deletion)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995794	NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr)	AGO2 (C751Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 995793	NM_012154.5(AGO2):c.1091T>C (p.Met364Thr)	AGO2 (M364T)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic
Select item 995792	NM_012154.5(AGO2):c.1070C>T (p.Thr357Met)	AGO2 (T357M)	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome +1 more	GPathogenic
Select item 995791	NM_012154.5(AGO2):c.575T>C (p.Leu192Pro)	AGO2, LOC126860545	Single nucleotide variant (missense variant)	Lessel-Kreienkamp syndrome	GPathogenic

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Items: 22