ClinVar for Gene (Select 1804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374780	NM_130797.4(DPP6):c.2302G>A (p.Glu768Lys)	DPP6 (E661K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3357829	NM_130797.4(DPP6):c.800A>T (p.His267Leu)	DPP6 (H160L +4 more)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GUncertain significance
Select item 3356743	NM_130797.4(DPP6):c.627+20893del	DPP6 (A263fs)	Deletion (frameshift variant +2 more)	DPP6-related disorder	GUncertain significance
Select item 3352805	NM_130797.4(DPP6):c.628-9C>T	DPP6	Single nucleotide variant (intron variant)	DPP6-related disorder	GLikely benign
Select item 3351397	NM_001364501.2(DPP6):c.49_51+7del	DPP6	Deletion (intron variant +1 more)	DPP6-related disorder	GUncertain significance
Select item 3351336	NM_130797.4(DPP6):c.627+20753G>A	DPP6 (R216K)	Single nucleotide variant (missense variant +2 more)	DPP6-related disorder	GLikely benign
Select item 3350375	NM_001364501.2(DPP6):c.15C>T (p.Ala5=)	DPP6	Single nucleotide variant (synonymous variant +2 more)	DPP6-related disorder	GBenign
Select item 3347604	NM_130797.4(DPP6):c.415G>A (p.Glu139Lys)	DPP6 (E139K +3 more)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GUncertain significance
Select item 3345120	NM_130797.4(DPP6):c.613T>A (p.Tyr205Asn)	DPP6 (Y141N +3 more)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GUncertain significance
Select item 3341917	NM_130797.4(DPP6):c.627+20255G>T	DPP6 (Q149H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3338562	NM_130797.4(DPP6):c.1916A>T (p.Glu639Val)	DPP6 (E532V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337050	NM_130797.4(DPP6):c.1714+2dup	DPP6	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3257669	NM_130797.4(DPP6):c.167GCG[5] (p.Gly61_Gly62del)	DPP6	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 3257666	NM_130797.4(DPP6):c.160C>G (p.Arg54Gly)	DPP6 (R54G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3257211	NM_130797.4(DPP6):c.2036G>A (p.Arg679Gln)	DPP6 (R572Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3255400	NM_130797.4(DPP6):c.2183dup (p.Asn728fs)	DPP6 (N621fs +4 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 3251623	NC_000007.13:g.(?_153749482)_(153750149_154143298)dup	DPP6	Duplication	not specified	GUncertain significance
Select item 3250722	NM_130797.4(DPP6):c.2082G>A (p.Thr694=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3238997	NM_130797.4(DPP6):c.167GCG[9] (p.Gly62_Ala63insGlyGly)	DPP6	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 3234564	NM_130797.4(DPP6):c.2114G>A (p.Arg705His)	DPP6 (R598H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234292	NM_130797.4(DPP6):c.1599T>G (p.Val533=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067450	NM_130797.4(DPP6):c.924G>A (p.Pro308=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3058412	NM_130797.4(DPP6):c.2451+9C>T	DPP6	Single nucleotide variant (intron variant)	DPP6-related disorder	GLikely benign
Select item 3054644	NM_130797.4(DPP6):c.1299+179C>G	DPP6 (P429R)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3052084	NM_130797.4(DPP6):c.627+21099G>A	DPP6	Single nucleotide variant (synonymous variant +2 more)	DPP6-related disorder	GBenign
Select item 3051723	NM_130797.4(DPP6):c.2333C>T (p.Ala778Val)	DPP6 (A671V +4 more)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3050949	NM_130797.4(DPP6):c.2378-7T>G	DPP6	Single nucleotide variant (intron variant)	DPP6-related disorder	GLikely benign
Select item 3050495	NM_130797.4(DPP6):c.457+9A>G	DPP6	Single nucleotide variant (intron variant)	DPP6-related disorder	GLikely benign
Select item 3050429	NM_130797.4(DPP6):c.1764C>T (p.Asp588=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3046523	NM_130797.4(DPP6):c.1299+18G>A	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3043455	NM_130797.4(DPP6):c.2334G>A (p.Ala778=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3043318	NM_130797.4(DPP6):c.458-9C>G	DPP6	Single nucleotide variant (intron variant)	DPP6-related disorder	GLikely benign
Select item 3043174	NM_130797.4(DPP6):c.627+21020C>T	DPP6 (T305I)	Single nucleotide variant (missense variant +2 more)	DPP6-related disorder	GBenign
Select item 3041847	NM_130797.4(DPP6):c.1299+51C>T	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3041739	NM_130797.4(DPP6):c.1995C>T (p.Ser665=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3041146	NM_130797.4(DPP6):c.939C>T (p.Leu313=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3038014	NM_130797.4(DPP6):c.2332G>A (p.Ala778Thr)	DPP6 (A671T +4 more)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3035746	NM_130797.4(DPP6):c.1257G>T (p.Thr419=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3033347	NM_130797.4(DPP6):c.1608C>T (p.Cys536=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	DPP6-related disorder	GLikely benign
Select item 3027026	NM_130797.4(DPP6):c.1979G>A (p.Cys660Tyr)	DPP6 (C553Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026626	NM_001364497.2(DPP6):c.60+138721G>A	DPP6 (V16M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3026401	NM_130797.4(DPP6):c.1410C>T (p.Pro470=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026390	NM_130797.4(DPP6):c.940G>A (p.Ala314Thr)	DPP6 (A207T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026020	NM_130797.4(DPP6):c.804C>T (p.Val268=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026004	NM_130797.4(DPP6):c.136C>T (p.Pro46Ser)	DPP6 (P46S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025934	NM_130797.4(DPP6):c.580A>G (p.Ile194Val)	DPP6 (I130V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025925	NM_130797.4(DPP6):c.183C>T (p.Gly61=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025919	NM_130797.4(DPP6):c.627+20879G>A	DPP6 (R258H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3024876	NM_130797.4(DPP6):c.2331C>T (p.Ser777=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2686005	NC_000007.14:g.(154772943_154794078)_(154894712_?)dup	DPP6	Duplication	Autism and apraxia	GUncertain significance
Select item 2673138	NM_130797.4(DPP6):c.1914T>G (p.Ala638=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2664581	NM_130797.4(DPP6):c.627+21098C>G	DPP6 (S331W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2658273	NM_130797.4(DPP6):c.2580G>A (p.Glu860=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658272	NM_130797.4(DPP6):c.2532G>A (p.Val844=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658271	NM_130797.4(DPP6):c.1964C>T (p.Ala655Val)	DPP6 (A548V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658270	NM_130797.4(DPP6):c.1941G>A (p.Thr647=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658269	NM_130797.4(DPP6):c.1802T>C (p.Ile601Thr)	DPP6 (I494T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658268	NM_130797.4(DPP6):c.1714+7G>C	DPP6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2658267	NM_130797.4(DPP6):c.1515G>A (p.Thr505=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658266	NM_130797.4(DPP6):c.1446C>T (p.Ser482=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658265	NM_130797.4(DPP6):c.1221C>T (p.Ile407=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658264	NM_130797.4(DPP6):c.1213G>A (p.Val405Met)	DPP6 (V298M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658263	NM_130797.4(DPP6):c.1015G>T (p.Val339Leu)	DPP6 (V232L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2658262	NM_130797.4(DPP6):c.949G>A (p.Ala317Thr)	DPP6 (A210T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658261	NM_130797.4(DPP6):c.744C>G (p.Gly248=)	DPP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2658260	NM_130797.4(DPP6):c.680+6A>G	DPP6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2658259	NM_130797.4(DPP6):c.666C>T (p.Ser222=)	DPP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2658258	NM_130797.4(DPP6):c.627+21114G>A	DPP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2658257	NM_130797.4(DPP6):c.627+21039A>G	DPP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2658256	NM_130797.4(DPP6):c.627+21029G>A	DPP6 (R308H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2658255	NM_130797.4(DPP6):c.627+20824C>T	DPP6 (H240Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2658254	NM_130797.4(DPP6):c.627+20797G>A	DPP6 (V231I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2658253	NM_130797.4(DPP6):c.243+11150C>A	DPP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658252	NM_130797.4(DPP6):c.243+7980G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658251	NM_130797.4(DPP6):c.243+5629A>G	DPP6, LOC101929998	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658250	NM_130797.4(DPP6):c.225C>T (p.Ser75=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658249	NM_130797.4(DPP6):c.150G>A (p.Ala50=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658248	NM_130797.4(DPP6):c.132C>T (p.Leu44=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658247	NM_130797.4(DPP6):c.99C>G (p.Pro33=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658246	NM_130797.4(DPP6):c.27T>C (p.Thr9=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2634158	NM_130797.4(DPP6):c.1299+68G>A	DPP6 (S392N)	Single nucleotide variant (missense variant +1 more)	DPP6-related disorder	GUncertain significance
Select item 2627608	NM_130797.4(DPP6):c.3G>A (p.Met1Ile)	DPP6 (M1I)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 2581441	NM_130797.4(DPP6):c.2252C>T (p.Ala751Val)	DPP6 (A644V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574031	NM_130797.4(DPP6):c.1249G>A (p.Val417Ile)	DPP6 (V310I +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2571303	NM_130797.4(DPP6):c.2193G>A (p.Gln731=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2499064	NM_130797.4(DPP6):c.1370G>A (p.Arg457Gln)	DPP6 (R350Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2441029	NM_130797.4(DPP6):c.457+3G>A	DPP6	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 2441028	NM_130797.4(DPP6):c.975C>G (p.Ile325Met)	DPP6 (I218M +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 2441027	NM_130797.4(DPP6):c.668A>G (p.Lys223Arg)	DPP6 (K159R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1992326	NM_130797.4(DPP6):c.1033C>T (p.Pro345Ser)	DPP6 (P281S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1722472	NM_130797.4(DPP6):c.397G>A (p.Val133Ile)	DPP6 (V133I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1706729	NM_130797.4(DPP6):c.2134-11G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701761	NM_130797.4(DPP6):c.1888G>A (p.Gly630Ser)	DPP6 (G523S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1695218	NM_130797.4(DPP6):c.235G>A (p.Glu79Lys)	DPP6 (E79K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1684985	NM_130797.4(DPP6):c.421T>C (p.Phe141Leu)	DPP6 (F141L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1677871	NM_130797.4(DPP6):c.2471A>G (p.His824Arg)	DPP6 (H717R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1677709	NM_130797.4(DPP6):c.1330C>T (p.Arg444Ter)	DPP6 (R337* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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