PDE6B[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1268

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1098709	NC_000004.12:g.1_705161del	PIGG, LOC129991945 +25 more	Deletion	not provided	GUncertain significance
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 155150	GRCh38/hg38 4p16.3(chr4:36424-1562150)x1	ATP5ME, CPLX1 +91 more	Copy number loss	See cases	GUncertain significance
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +124 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148311	GRCh38/hg38 4p16.3(chr4:36424-1581567)x3	ATP5ME, CPLX1 +95 more	Copy number gain	See cases	GLikely pathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 147744	GRCh38/hg38 4p16.3(chr4:51519-1405362)x1	ATP5ME, CPLX1 +90 more	Copy number loss	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 153530	GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 151213	GRCh38/hg38 4p16.3(chr4:72555-690085)x1	ATP5ME, LOC105374338 +25 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 150613	GRCh38/hg38 4p16.3(chr4:72555-1581567)x1	ATP5ME, CPLX1 +95 more	Copy number loss	See cases	GUncertain significance
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 148049	GRCh38/hg38 4p16.3(chr4:72555-1153038)x1	ATP5ME, CPLX1 +58 more	Copy number loss	See cases	GUncertain significance
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 57823	GRCh38/hg38 4p16.3(chr4:72555-1405362)x3	ATP5ME, CPLX1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 60162	GRCh38/hg38 4p16.3(chr4:85149-634761)x1	LOC105374338, LOC126806939 +17 more	Copy number loss	See cases	GUncertain significance
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146344	GRCh38/hg38 4p16.3(chr4:620566-1405362)x3	ATP5ME, CPLX1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 1286449	NC_000004.12:g.625470T>C	PDE6B	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 438191	NM_000283.4(PDE6B):c.1A>G (p.Met1Val)	PDE6B (M1V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 933238	NM_000283.4(PDE6B):c.3G>T (p.Met1Ile)	PDE6B (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066809	NM_000283.4(PDE6B):c.9C>T (p.Leu3=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948441	NM_000283.4(PDE6B):c.23C>T (p.Ala8Val)	PDE6B (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1069615	NM_000283.4(PDE6B):c.25del (p.Arg9fs)	PDE6B (R9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 968558	NM_000283.4(PDE6B):c.25C>T (p.Arg9Trp)	PDE6B (R9W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 784032	NM_000283.4(PDE6B):c.26G>A (p.Arg9Gln)	PDE6B (R9Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2857881	NM_000283.4(PDE6B):c.30C>T (p.Ser10=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515857	NM_000283.4(PDE6B):c.46C>G (p.Pro16Ala)	PDE6B (P16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105288	NM_000283.4(PDE6B):c.48C>T (p.Pro16=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716213	NM_000283.4(PDE6B):c.49G>T (p.Asp17Tyr)	PDE6B (D17Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499587	NM_000283.4(PDE6B):c.49G>A (p.Asp17Asn)	PDE6B (D17N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960655	NM_000283.4(PDE6B):c.55G>T (p.Ala19Ser)	PDE6B (A19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 956267	NM_000283.4(PDE6B):c.58C>T (p.Arg20Cys)	PDE6B (R20C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903660	NM_000283.4(PDE6B):c.59G>A (p.Arg20His)	PDE6B (R20H)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 954082	NM_000283.4(PDE6B):c.71G>C (p.Gly24Ala)	PDE6B (G24A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2319089	NM_000283.4(PDE6B):c.74A>G (p.Lys25Arg)	PDE6B (K25R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1104529	NM_000283.4(PDE6B):c.78A>G (p.Lys26=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371337	NM_000283.4(PDE6B):c.80_81del (p.Leu27fs)	PDE6B (L27fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2995279	NM_000283.4(PDE6B):c.86C>G (p.Pro29Arg)	PDE6B (P29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560704	NM_000283.4(PDE6B):c.87T>G (p.Pro29=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386331	NM_000283.4(PDE6B):c.93T>A (p.Asn31Lys)	PDE6B (N31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004818	NM_000283.4(PDE6B):c.95T>A (p.Val32Glu)	PDE6B (V32E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983550	NM_000283.4(PDE6B):c.100G>A (p.Ala34Thr)	PDE6B (A34T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397831	NM_000283.4(PDE6B):c.100G>C (p.Ala34Pro)	PDE6B (A34P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 13