ClinVar for Gene (Select 101928521) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027610	NM_000283.4(PDE6B):c.786C>G (p.Tyr262Ter)	PDE6B, PDE6B-AS1 (Y262*)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal dystrophy	GPathogenic
Select item 3027609	NM_000283.4(PDE6B):c.785A>G (p.Tyr262Cys)	PDE6B, PDE6B-AS1 (Y262C)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 2965654	NM_000283.4(PDE6B):c.778G>T (p.Ala260Ser)	PDE6B, PDE6B-AS1 (A260S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2860494	NM_000283.4(PDE6B):c.726G>T (p.Ser242=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2845826	NM_000283.4(PDE6B):c.957_958delinsTA (p.Val320Ile)	PDE6B, PDE6B-AS1 (V41I +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2797026	NM_000283.4(PDE6B):c.712-10del	PDE6B, PDE6B-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2749427	NM_000283.4(PDE6B):c.754G>C (p.Asp252His)	PDE6B, PDE6B-AS1 (D252H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2620794	NM_000283.4(PDE6B):c.758T>C (p.Ile253Thr)	PDE6B, PDE6B-AS1 (I253T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2156514	NM_000283.4(PDE6B):c.897G>A (p.Pro299=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2128085	NM_000283.4(PDE6B):c.718C>T (p.Leu240=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2110762	NM_000283.4(PDE6B):c.847G>A (p.Glu283Lys)	PDE6B, PDE6B-AS1 (E4K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2110466	NM_000283.4(PDE6B):c.852+1G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2101616	NM_000283.4(PDE6B):c.940T>C (p.Tyr314His)	PDE6B, PDE6B-AS1 (Y314H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079419	NM_000283.4(PDE6B):c.807C>T (p.Asn269=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2075435	NM_000283.4(PDE6B):c.801C>A (p.Tyr267Ter)	PDE6B, PDE6B-AS1 (Y267*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2048340	NM_000283.4(PDE6B):c.798C>G (p.Ala266=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2031010	NM_000283.4(PDE6B):c.951C>T (p.Ile317=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024270	NM_000283.4(PDE6B):c.842C>G (p.Thr281Ser)	PDE6B, PDE6B-AS1 (T2S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010518	NM_000283.4(PDE6B):c.927+11G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003482	NM_000283.4(PDE6B):c.927+7C>T	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957369	NM_000283.4(PDE6B):c.936C>T (p.Val312=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954794	NM_000283.4(PDE6B):c.910C>T (p.Arg304Cys)	PDE6B, PDE6B-AS1 (R304C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941056	NM_000283.4(PDE6B):c.816G>A (p.Arg272=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1930836	NM_000283.4(PDE6B):c.976G>A (p.Glu326Lys)	PDE6B, PDE6B-AS1 (E326K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1929719	NM_000283.4(PDE6B):c.865G>A (p.Val289Met)	PDE6B, PDE6B-AS1 (V10M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926312	NM_000283.4(PDE6B):c.864C>T (p.Asp288=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1924053	NM_000283.4(PDE6B):c.876G>A (p.Val292=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1922838	NM_000283.4(PDE6B):c.927+4A>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1922406	NM_000283.4(PDE6B):c.879G>C (p.Leu293=)	PDE6B, PDE6B-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1919586	NM_000283.4(PDE6B):c.896C>T (p.Pro299Leu)	PDE6B, PDE6B-AS1 (P20L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914682	NM_000283.4(PDE6B):c.927+7C>G	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897860	NM_000283.4(PDE6B):c.927+18G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1715693	NM_000283.4(PDE6B):c.821C>T (p.Ser274Phe)	PDE6B, PDE6B-AS1 (S274F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715679	NM_000283.4(PDE6B):c.797C>T (p.Ala266Val)	PDE6B, PDE6B-AS1 (A266V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707115	NM_000283.4(PDE6B):c.1401+110_1401+155del	PDE6B-AS1, PDE6B	Deletion (intron variant)	not provided	GLikely benign
Select item 1648326	NM_000283.4(PDE6B):c.712-14G>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628438	NM_000283.4(PDE6B):c.780C>T (p.Ala260=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1627368	NM_000283.4(PDE6B):c.928-19_928-18insAGCAGAA	PDE6B, PDE6B-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1618257	NM_000283.4(PDE6B):c.978G>A (p.Glu326=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1614201	NM_000283.4(PDE6B):c.927+17G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610431	NM_000283.4(PDE6B):c.933T>C (p.Ile311=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1574050	NM_000283.4(PDE6B):c.992+8C>G	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572590	NM_000283.4(PDE6B):c.822C>T (p.Ser274=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1561698	NM_000283.4(PDE6B):c.759C>T (p.Ile253=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1552008	NM_000283.4(PDE6B):c.981C>A (p.Ile327=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1544960	NM_000283.4(PDE6B):c.712-13C>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531136	NM_000283.4(PDE6B):c.903G>A (p.Ser301=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525415	NM_000283.4(PDE6B):c.852+6G>T	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1518864	NM_000283.4(PDE6B):c.892C>A (p.Gln298Lys)	PDE6B-AS1, PDE6B (Q19K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1510584	NM_000283.4(PDE6B):c.725C>G (p.Ser242Trp)	PDE6B, PDE6B-AS1 (S242W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1501784	NM_000283.4(PDE6B):c.838A>G (p.Met280Val)	PDE6B, PDE6B-AS1 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1497044	NM_000283.4(PDE6B):c.973GAG[1] (p.Glu326del)	PDE6B, PDE6B-AS1 (E326del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1493750	NM_000283.4(PDE6B):c.968G>A (p.Gly323Asp)	PDE6B, PDE6B-AS1 (G323D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490432	NM_000283.4(PDE6B):c.992C>T (p.Pro331Leu)	PDE6B, PDE6B-AS1 (P331L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489387	NM_000283.4(PDE6B):c.925C>T (p.Arg309Trp)	PDE6B, PDE6B-AS1 (R309W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1464500	NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe)	PDE6B, PDE6B-AS1 (Y267F)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1427250	NM_000283.4(PDE6B):c.851A>T (p.Lys284Met)	PDE6B, PDE6B-AS1 (K284M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416018	NM_000283.4(PDE6B):c.811G>C (p.Glu271Gln)	PDE6B, PDE6B-AS1 (E271Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393566	NM_000283.4(PDE6B):c.815G>A (p.Arg272Gln)	PDE6B, PDE6B-AS1 (R272Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 1372293	NM_000283.4(PDE6B):c.788C>A (p.Thr263Lys)	PDE6B, PDE6B-AS1 (T263K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369681	NM_000283.4(PDE6B):c.881T>C (p.Met294Thr)	PDE6B, PDE6B-AS1 (M294T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362182	NM_000283.4(PDE6B):c.919G>A (p.Asp307Asn)	PDE6B, PDE6B-AS1 (D28N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1333030	NM_000283.4(PDE6B):c.863_864del (p.Asp288fs)	PDE6B-AS1, PDE6B (D288fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic
Select item 1326694	NM_000283.4(PDE6B):c.928-175G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1293515	NM_000283.4(PDE6B):c.712-39G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277847	NM_000283.4(PDE6B):c.852+15G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1241227	NM_000283.4(PDE6B):c.712-135A>G	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241108	NM_000283.4(PDE6B):c.712-138G>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1180938	NM_000283.4(PDE6B):c.992+32G>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165549	NM_000283.4(PDE6B):c.852+11C>T	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1157341	NM_000283.4(PDE6B):c.990T>C (p.Ile330=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1153731	NM_000283.4(PDE6B):c.801C>T (p.Tyr267=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1145083	NM_000283.4(PDE6B):c.928-9G>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1130643	NM_000283.4(PDE6B):c.810C>T (p.Cys270=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1130617	NM_000283.4(PDE6B):c.753G>A (p.Thr251=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1112026	NM_000283.4(PDE6B):c.786C>T (p.Tyr262=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1106198	NM_000283.4(PDE6B):c.927+9T>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1098709	NC_000004.12:g.1_705161del	PIGG, LOC129991945 +25 more	Deletion	not provided	GUncertain significance
Select item 1074503	NM_000283.4(PDE6B):c.756del (p.Asp252fs)	PDE6B, PDE6B-AS1 (D252fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1066621	NM_000283.4(PDE6B):c.992+1G>C	PDE6B, PDE6B-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1063956	NM_000283.4(PDE6B):c.827G>A (p.Gly276Asp)	PDE6B-AS1, PDE6B (G276D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1057390	NM_000283.4(PDE6B):c.752C>T (p.Thr251Met)	PDE6B, PDE6B-AS1 (T251M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1051946	NM_000283.4(PDE6B):c.927+5G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1036849	NM_000283.4(PDE6B):c.754G>T (p.Asp252Tyr)	PDE6B, PDE6B-AS1 (D252Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019515	NM_000283.4(PDE6B):c.788C>T (p.Thr263Met)	PDE6B, PDE6B-AS1 (T263M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018832	NM_000283.4(PDE6B):c.814C>T (p.Arg272Trp)	PDE6B, PDE6B-AS1 (R272W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998801	NM_000283.4(PDE6B):c.812A>C (p.Glu271Ala)	PDE6B, PDE6B-AS1 (E271A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 964128	NM_000283.4(PDE6B):c.865G>C (p.Val289Leu)	PDE6B, PDE6B-AS1 (V10L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 962424	NM_000283.4(PDE6B):c.760G>A (p.Glu254Lys)	PDE6B, PDE6B-AS1 (E254K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 905966	NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)	PDE6B, PDE6B-AS1 (T263A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 905524	NM_000283.4(PDE6B):c.986T>C (p.Val329Ala)	PDE6B, PDE6B-AS1 (V329A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness autosomal dominant 2 +1 more	GUncertain significance
Select item 905523	NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)	PDE6B, PDE6B-AS1 (G323S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 866493	NM_000283.4(PDE6B):c.804C>T (p.Leu268=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865778	NM_000283.4(PDE6B):c.774C>G (p.His258Gln)	PDE6B, PDE6B-AS1 (H258Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 859226	NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly)	PDE6B, PDE6B-AS1 (E271G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance

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