DPP6[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 318

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 144921	GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3	DPP6	Copy number gain	See cases	GBenign
Select item 146456	GRCh38/hg38 7q36.2(chr7:153540271-154126004)x3	DPP6, LOC101929998 +1 more	Copy number gain	See cases	GLikely benign
Select item 153049	GRCh38/hg38 7q36.2(chr7:153590855-154359847)x3	DPP6, LOC101929998 +1 more	Copy number gain	See cases	GUncertain significance
Select item 148394	GRCh38/hg38 7q36.2(chr7:153629158-154311915)x3	LOC126860236, DPP6 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1213816	NM_001364497.2(DPP6):c.39T>A (p.Cys13Ter)	DPP6 (C13*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 152404	GRCh38/hg38 7q36.2(chr7:153790178-153954188)x3	DPP6, LOC126860236	Copy number gain	See cases	GBenign
Select item 545344	NC_000007.14:g.(?_153822158)_(153968005_?)del	DPP6, LOC126860236	Deletion	Schizophrenia	GLikely pathogenic
Select item 148064	GRCh38/hg38 7q36.2(chr7:153833292-154359847)x3	DPP6, LOC101929998 +1 more	Copy number gain	See cases	GUncertain significance
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 1028479	NM_001039350.3(DPP6):c.19A>G (p.Ile7Val)	DPP6 (I7V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 3351397	NM_001364501.2(DPP6):c.49_51+7del	DPP6	Deletion (intron variant +1 more)	DPP6-related disorder	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 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 189390	NC_000007.13:g.153649777_153985995del	DPP6, LOC101929998	Deletion	Intellectual disability, autosomal dominant 33	GPathogenic
Select item 1278530	NM_001039350.3(DPP6):c.51+164380_51+164383del	DPP6	Deletion (intron variant)	not provided	GBenign
Select item 1232875	NM_001039350.3(DPP6):c.51+164385C>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274603	NM_001039350.3(DPP6):c.51+164472A>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279909	NM_001039350.3(DPP6):c.51+164609G>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183923	NM_130797.4(DPP6):c.-153C>T	DPP6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259138	NM_130797.4(DPP6):c.-88del	DPP6	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
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 2658246	NM_130797.4(DPP6):c.27T>C (p.Thr9=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1049455	NM_130797.4(DPP6):c.58G>A (p.Ala20Thr)	DPP6 (A20T)	Single nucleotide variant (missense variant +1 more)	Ventricular fibrillation, paroxysmal familial, 2 +1 more	GUncertain significance
Select item 1032378	NM_130797.4(DPP6):c.88G>A (p.Gly30Ser)	DPP6 (G30S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
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 930297	NM_130797.4(DPP6):c.109G>T (p.Gly37Cys)	DPP6 (G37C)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 33	GUncertain significance
Select item 1247688	NM_130797.4(DPP6):c.114C>T (p.Gly38=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1335703	NM_130797.4(DPP6):c.127C>G (p.Pro43Ala)	DPP6 (P43A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1297601	NM_130797.4(DPP6):c.140G>T (p.Arg47Leu)	DPP6 (R47L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1297613	NM_130797.4(DPP6):c.141G>T (p.Arg47=)	DPP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1677676	NM_130797.4(DPP6):c.157_184del (p.Pro53fs)	DPP6 (P53fs)	Deletion (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 3257666	NM_130797.4(DPP6):c.160C>G (p.Arg54Gly)	DPP6 (R54G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 810229	NM_130797.4(DPP6):c.167GCG[8] (p.Gly62dup)	DPP6	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
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 1299926	NM_130797.4(DPP6):c.167GCG[6] (p.Gly62del)	DPP6 (G62del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
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 252778	NM_130797.4(DPP6):c.193G>T (p.Gly65Cys)	DPP6 (G65C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 252779	NM_130797.4(DPP6):c.194G>T (p.Gly65Val)	DPP6 (G65V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 377138	NM_130797.4(DPP6):c.226G>A (p.Asp76Asn)	DPP6 (D76N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 252780	NM_130797.4(DPP6):c.227A>T (p.Asp76Val)	DPP6 (D76V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 1238658	NM_130797.4(DPP6):c.243+13del	DPP6	Deletion (intron variant)	not provided	GBenign
Select item 1249941	NM_130797.4(DPP6):c.243+86T>G	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250139	NM_130797.4(DPP6):c.243+172dup	DPP6	Duplication (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 2658252	NM_130797.4(DPP6):c.243+7980G>A	DPP6	Single nucleotide variant (intron variant)	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 145727	GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3	DPP6	Copy number gain	See cases	GBenign
Select item 1288968	NM_130797.4(DPP6):c.244-141195CCCCAG[8]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1282140	NM_130797.4(DPP6):c.244-141195CCCCAG[4]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1238099	NM_130797.4(DPP6):c.244-141195CCCCAG[7]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1231498	NM_130797.4(DPP6):c.244-141195CCCCAG[6]	DPP6	Microsatellite (intron variant)	not provided	GBenign
Select item 1224672	NM_130797.4(DPP6):c.244-141092G>A	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16794	NM_130797.4(DPP6):c.244-141059C>T	DPP6	Single nucleotide variant (intron variant)	Ventricular fibrillation, paroxysmal familial, 2 +1 more	GPathogenic; risk factor
Select item 1253122	NM_130797.4(DPP6):c.244-140444T>C	DPP6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1299637	NM_130797.4(DPP6):c.244-1G>A	DPP6	Single nucleotide variant (splice acceptor variant +2 more)	HP:0000729 Autistic spectrum disorder	GUncertain significance

<< First< Prev

Page of 4