ClinVar for MedGen (Select 462457) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248541	NM_000283.4(PDE6B):c.2503+2T>C	ATP5ME, PDE6B	Single nucleotide variant (splice donor variant +1 more)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 3065061	NM_000283.4(PDE6B):c.1229T>C (p.Phe410Ser)	PDE6B (F131S +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 2683982	NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)	PDE6B (I357N +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 2628368	NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)	PDE6B (R98P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 2575905	NM_000283.4(PDE6B):c.2193G>A (p.Lys731=)	PDE6B	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 2500848	NM_000283.4(PDE6B):c.1107+219G>A	PDE6B	Single nucleotide variant (intron variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 2445452	NM_000283.4(PDE6B):c.2117A>T (p.Lys706Met)	PDE6B (K321M +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 1803155	NM_000283.4(PDE6B):c.946G>A (p.Val316Met)	PDE6B, PDE6B-AS1 (V316M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1713277	NC_000004.12:g.670405_677862del	ATP5ME, MYL5 +2 more	Deletion	Retinitis pigmentosa 40	GPathogenic
Select item 1698713	NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile)	PDE6B (T207I +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 1420900	NM_000283.4(PDE6B):c.1243G>A (p.Glu415Lys)	PDE6B (E136K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40 +1 more	GConflicting classifications of pathogenicity
Select item 1358080	NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)	PDE6B (Q88*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1213876	NM_000283.4(PDE6B):c.510C>G (p.Tyr170Ter)	PDE6B (Y170*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 40	GPathogenic
Select item 1184488	NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs)	PDE6B (N258fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184487	NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu)	PDE6B (P108L +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1184486	NM_000283.4(PDE6B):c.853-1G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 40	GPathogenic
Select item 1172721	NM_000283.4(PDE6B):c.1682A>G (p.His561Arg)	PDE6B (H176R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1070411	NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)	PDE6B (D215N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1065730	NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs)	PDE6B (L425fs +2 more)	Microsatellite (frameshift variant)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 1065703	NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser)	PDE6B (F247S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 997843	NM_000283.4(PDE6B):c.1667A>G (p.Tyr556Cys)	PDE6B (Y171C +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 997842	NM_000283.4(PDE6B):c.1258-2A>G	PDE6B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 997841	NM_000283.4(PDE6B):c.221dup (p.Val75fs)	PDE6B (V75fs)	Duplication (frameshift variant)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 986375	NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)	PDE6B (N258fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness autosomal dominant 2	GPathogenic
Select item 986369	NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys)	PDE6B (Y196C +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 939288	NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr)	PDE6B (C717Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 931878	NM_000283.4(PDE6B):c.2353-7_2353-3del	PDE6B	Deletion (intron variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 931852	NM_000283.4(PDE6B):c.1859A>G (p.His620Arg)	PDE6B (H235R +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 930976	NM_000283.4(PDE6B):c.559G>A (p.Val187Met)	PDE6B (V187M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40	GUncertain significance
Select item 867185	NM_000283.4(PDE6B):c.992+1G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 40 +2 more	GPathogenic/Likely pathogenic
Select item 866296	NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)	PDE6B (Q652* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 40 +4 more	GPathogenic
Select item 853337	NM_000283.4(PDE6B):c.2332G>A (p.Val778Met)	PDE6B (V499M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 849373	NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)	PDE6B (R542W +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 813068	NM_000283.4(PDE6B):c.1401+2T>G	PDE6B	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 813066	NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly)	PDE6B (D283G +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 813064	NM_000283.4(PDE6B):c.177_248dup (p.Leu60_Leu83dup)	PDE6B	Duplication (inframe_insertion)	Retinitis pigmentosa	GPathogenic
Select item 813063	NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His)	PDE6B (Y582H +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 813062	NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter)	PDE6B-AS1, PDE6B (Q185* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 783414	NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)	PDE6B (A34V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40 +2 more	GBenign/Likely benign
Select item 684509	NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu)	PDE6B (M714L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636062	NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)	PDE6B (E129K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 560482	NM_000283.4(PDE6B):c.837del (p.Asp279fs)	PDE6B, PDE6B-AS1 (D279fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 560481	NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter)	PDE6B (K195*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 40	GPathogenic
Select item 560480	NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp)	PDE6B (N803D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560479	NM_000283.4(PDE6B):c.1923_1971delinsTCTGGGTA (p.Asn643fs)	PDE6B (N364fs +2 more)	Indel (frameshift variant)	Retinitis pigmentosa 40	GPathogenic
Select item 560478	NM_000283.4(PDE6B):c.1107+2dup	PDE6B, PDE6B-AS1	Duplication (splice donor variant +1 more)	Retinitis pigmentosa 40	GPathogenic
Select item 560477	NM_000283.4(PDE6B):c.1041_1042dup (p.Val348fs)	PDE6B, PDE6B-AS1 (V348fs +1 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 40	GPathogenic
Select item 523351	NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys)	PDE6B (N182K)	Single nucleotide variant (missense variant)	Macular dystrophy +1 more	GUncertain significance
Select item 522405	NM_000283.4(PDE6B):c.1832+1G>T	PDE6B	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 438188	NM_000283.4(PDE6B):c.1107+3A>G	PDE6B	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 425324	NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)	PDE6B, PDE6B-AS1 (E296* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis +1 more	GPathogenic/Likely pathogenic
Select item 378339	NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)	PDE6B (L527P +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 349400	NM_000283.4(PDE6B):c.*12A>G	PDE6B (M559V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital stationary night blindness autosomal dominant 2 +3 more	GBenign
Select item 349393	NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)	PDE6B	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 2 +3 more	GBenign/Likely benign
Select item 349392	NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)	PDE6B (D776N +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 349362	NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)	PDE6B, PDE6B-AS1 (F247I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 287073	NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)	PDE6B (D718N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 225435	NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile)	PDE6B (T604I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 224742	NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	PDE6B (N364fs +2 more)	Indel (frameshift variant)	Retinitis pigmentosa 40 +2 more	GPathogenic/Likely pathogenic
Select item 224741	NM_000283.4(PDE6B):c.1876G>T (p.Glu626Ter)	PDE6B (E626* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 40	GLikely pathogenic
Select item 217798	NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)	PDE6B (R560C +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 194164	NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)	PDE6B (G562D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193073	NM_000283.4(PDE6B):c.299G>A (p.Arg100His)	PDE6B (R100H)	Single nucleotide variant (missense variant)	PDE6B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 40 +5 more	GPathogenic
Select item 167436	NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)	PDE6B, PDE6B-AS1 (V41I)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign
Select item 143067	NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn)	PDE6B (I535N +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 92766	NM_000283.4(PDE6B):c.1540del (p.Leu514fs)	PDE6B (L129fs +2 more)	Deletion (frameshift variant)	PDE6B-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 13109	NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg)	PDE6B (W807R +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40 +1 more	GPathogenic
Select item 13108	NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)	PDE6B (L83fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 13106	NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr)	PDE6B (H557Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13105	NM_000283.4(PDE6B):c.1488del (p.Thr497fs)	PDE6B (T112fs +2 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 13104	NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter)	PDE6B (R531* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 13103	NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	PDE6B, PDE6B-AS1 (Q298* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic

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Items: 73