"Dept Of Ophthalmology, Nagoya University"[submitter] AND "IMPG2"[gene - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901371	NM_016247.4(IMPG2):c.3703G>C (p.Glu1235Gln)	IMPG2 (E1235Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 3027548	NM_016247.4(IMPG2):c.3603_3604del (p.Gln1201fs)	IMPG2 (Q1201fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1661128	NM_016247.4(IMPG2):c.3567C>T (p.Asp1189=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 342334	NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3027549	NM_016247.4(IMPG2):c.3555T>C (p.Ser1185=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1384852	NM_016247.4(IMPG2):c.3484G>A (p.Val1162Met)	IMPG2 (V1162M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1140784	NM_016247.4(IMPG2):c.3393T>C (p.His1131=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 901372	NM_016247.4(IMPG2):c.3386C>G (p.Ala1129Gly)	IMPG2 (A1129G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 342337	NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign
Select item 861201	NM_016247.4(IMPG2):c.3298G>A (p.Val1100Met)	IMPG2 (V1100M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 901919	NM_016247.4(IMPG2):c.3288G>A (p.Val1096=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1115361	NM_016247.4(IMPG2):c.3219C>T (p.His1073=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3027551	NM_016247.4(IMPG2):c.3097G>T (p.Glu1033Ter)	IMPG2 (E1033*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3027552	NM_016247.4(IMPG2):c.3070G>C (p.Glu1024Gln)	IMPG2 (E1024Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027553	NM_016247.4(IMPG2):c.3011A>G (p.Asp1004Gly)	IMPG2 (D1004G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3549	NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)	IMPG2 (R964*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3548	NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)	IMPG2 (R906*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 3027554	NM_016247.4(IMPG2):c.2517G>A (p.Ser839=)	IMPG2	Single nucleotide variant (synonymous variant)	IMPG2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 342345	NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)	IMPG2 (S811A)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1503393	NM_016247.4(IMPG2):c.2071G>A (p.Ala691Thr)	IMPG2 (A691T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 95747	NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)	IMPG2 (T674I)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GBenign
Select item 3027556	NM_016247.4(IMPG2):c.1637C>T (p.Pro546Leu)	IMPG2 (P546L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 95746	NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val)	IMPG2 (I528V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 342350	NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)	IMPG2 (T461R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 3027557	NM_016247.4(IMPG2):c.1344dup (p.Leu449fs)	IMPG2 (L449fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 866148	NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter)	IMPG2 (W421*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 901977	NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser)	IMPG2 (A407S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 901978	NM_016247.4(IMPG2):c.1187T>C (p.Leu396Pro)	IMPG2 (L396P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 342353	NM_016247.4(IMPG2):c.1169G>A (p.Arg390His)	IMPG2 (R390H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 3027558	NM_016247.4(IMPG2):c.1167G>C (p.Leu389Phe)	IMPG2 (L389F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027559	NM_016247.4(IMPG2):c.1057A>G (p.Asn353Asp)	IMPG2 (N353D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027560	NM_016247.4(IMPG2):c.871C>G (p.Arg291Gly)	IMPG2 (R291G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1646786	NM_016247.4(IMPG2):c.525T>C (p.Thr175=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 941677	NM_016247.4(IMPG2):c.391C>T (p.Arg131Cys)	IMPG2 (R131C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3027561	NM_016247.4(IMPG2):c.332G>C (p.Arg111Pro)	IMPG2 (R111P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027562	NM_016247.4(IMPG2):c.324dup (p.Lys109Ter)	IMPG2 (K109*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3027563	NM_016247.4(IMPG2):c.284A>T (p.Glu95Val)	IMPG2 (E95V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027564	NM_016247.4(IMPG2):c.198_201dup (p.Arg68fs)	IMPG2 (R68fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3027565	NM_016247.4(IMPG2):c.192G>A (p.Gln64=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3027566	NM_016247.4(IMPG2):c.176C>G (p.Ala59Gly)	IMPG2 (A59G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027567	NM_016247.4(IMPG2):c.89_92del (p.Gln30fs)	IMPG2 (Q30fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 722319	NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu)	IMPG2 (F7L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity

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Items: 42