ClinVar for Gene (Select 55209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382739	NM_001080517.3(SETD5):c.2573dup (p.Pro859fs)	SETD5 (P761fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 3381518	NM_001080517.3(SETD5):c.2093A>G (p.Lys698Arg)	SETD5 (K600R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381455	NM_001080517.3(SETD5):c.364C>T (p.Arg122Trp)	SETD5 (R11W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378316	NM_001080517.3(SETD5):c.1508T>G (p.Leu503Arg)	SETD5 (L405R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378153	NM_001080517.3(SETD5):c.3967del (p.Ser1323fs)	SETD5 (S1225fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3377053	NM_001080517.3(SETD5):c.1635_1638del (p.Thr546fs)	SETD5 (T448fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 3377052	NM_001080517.3(SETD5):c.2394_2401dup (p.Gln801fs)	SETD5 (Q703fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 3376451	NM_001080517.3(SETD5):c.2104-1G>A	SETD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3376410	NM_001080517.3(SETD5):c.1605del (p.Leu536fs)	SETD5 (L438fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 3376308	NM_001080517.3(SETD5):c.2201C>T (p.Thr734Met)	SETD5 (T636M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 3376085	NM_001080517.3(SETD5):c.1112T>A (p.Leu371Gln)	SETD5 (L273Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376025	NM_001080517.3(SETD5):c.4238A>T (p.His1413Leu)	SETD5 (H1315L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373609	NM_001080517.3(SETD5):c.152A>G (p.His51Arg)	SETD5 (H51R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373530	NM_001080517.3(SETD5):c.3295G>C (p.Ala1099Pro)	SETD5 (A1001P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373405	NM_001080517.3(SETD5):c.2984G>A (p.Arg995Gln)	SETD5 (R897Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372414	NM_001080517.3(SETD5):c.1497C>G (p.Asp499Glu)	SETD5 (D401E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372003	NM_001080517.3(SETD5):c.2954A>G (p.Tyr985Cys)	SETD5 (Y887C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371739	NM_001080517.3(SETD5):c.2564C>T (p.Thr855Ile)	SETD5 (T757I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371485	NM_001080517.3(SETD5):c.632G>A (p.Arg211Lys)	SETD5 (R113K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371436	NM_001080517.3(SETD5):c.1183A>G (p.Asn395Asp)	SETD5 (N297D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371367	NM_001080517.3(SETD5):c.2945_2950del (p.Asn982_Leu983del)	SETD5	Deletion	not provided	GUncertain significance
Select item 3370566	NM_001080517.3(SETD5):c.568A>G (p.Asn190Asp)	SETD5 (N190D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370316	NM_001080517.3(SETD5):c.177+1G>A	SETD5	Single nucleotide variant (splice donor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3370228	NM_001080517.3(SETD5):c.7A>G (p.Ile3Val)	SETD5 (I3V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369889	NM_001080517.3(SETD5):c.2633A>G (p.Glu878Gly)	SETD5 (E780G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369256	NM_001080517.3(SETD5):c.82G>C (p.Val28Leu)	SETD5 (V28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368972	NM_001080517.3(SETD5):c.1405G>C (p.Val469Leu)	SETD5 (V371L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368224	NM_001080517.3(SETD5):c.1707C>A (p.Asn569Lys)	SETD5 (N471K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368083	NM_001080517.3(SETD5):c.2237C>A (p.Pro746Gln)	SETD5 (P648Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367829	NM_001080517.3(SETD5):c.1066C>A (p.Pro356Thr)	SETD5 (P258T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365915	NM_001080517.3(SETD5):c.3238G>A (p.Glu1080Lys)	SETD5 (E1080K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365146	NM_001080517.3(SETD5):c.2346+1G>A	SETD5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3364491	NM_001080517.3(SETD5):c.79T>A (p.Ser27Thr)	SETD5 (S27T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364469	NM_001080517.3(SETD5):c.1651G>C (p.Glu551Gln)	SETD5 (E453Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363224	NM_001080517.3(SETD5):c.2545C>T (p.Arg849Trp)	SETD5 (R751W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361564	NM_001080517.3(SETD5):c.4207T>C (p.Ser1403Pro)	SETD5 (S1305P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361346	NM_001080517.3(SETD5):c.3711C>A (p.Tyr1237Ter)	SETD5 (Y1139* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3360642	NM_001080517.3(SETD5):c.2264A>G (p.Tyr755Cys)	SETD5 (Y657C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359921	NM_001080517.3(SETD5):c.298G>A (p.Asp100Asn)	SETD5 (D100N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359591	NM_001080517.3(SETD5):c.2369AAG[1] (p.Glu791del)	SETD5 (E693del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359332	NM_001080517.3(SETD5):c.2922C>G (p.Asp974Glu)	SETD5 (D876E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359044	NM_001080517.3(SETD5):c.2838_2847del (p.His947fs)	SETD5 (H849fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 3358956	NM_001080517.3(SETD5):c.740del (p.Pro247fs)	SETD5 (P149fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3358918	NM_001080517.3(SETD5):c.3860dup (p.His1287fs)	SETD5 (H1189fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3355944	NM_001080517.3(SETD5):c.4163C>T (p.Thr1388Ile)	SETD5 (T1290I +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3354325	NM_001080517.3(SETD5):c.1569A>C (p.Glu523Asp)	SETD5 (E425D +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3352759	NM_001080517.3(SETD5):c.1525-4C>T	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder	GLikely benign
Select item 3349040	NM_001080517.3(SETD5):c.2158G>T (p.Glu720Ter)	SETD5 (E622* +1 more)	Single nucleotide variant (nonsense)	SETD5-related disorder	GLikely pathogenic
Select item 3348836	NM_001080517.3(SETD5):c.1081C>G (p.Arg361Gly)	SETD5 (R263G +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3344977	NM_001080517.3(SETD5):c.3637G>A (p.Ala1213Thr)	SETD5 (A1115T +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3344506	NM_001080517.3(SETD5):c.1745G>A (p.Ser582Asn)	SETD5 (S484N +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3343312	NM_001080517.3(SETD5):c.4033G>C (p.Ala1345Pro)	SETD5 (A1247P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343082	NM_001080517.3(SETD5):c.1565T>G (p.Phe522Cys)	SETD5 (F424C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342908	NM_001080517.3(SETD5):c.697C>G (p.Leu233Val)	SETD5 (L135V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337862	NM_001080517.3(SETD5):c.-171C>T	SETD5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3337574	NM_001080517.3(SETD5):c.2955T>G (p.Tyr985Ter)	SETD5 (Y887* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337572	NM_001080517.3(SETD5):c.2428C>T (p.Gln810Ter)	SETD5 (Q712* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337176	NM_001080517.3(SETD5):c.2255_2270delinsTTTGGCTCACC (p.Pro752fs)	SETD5 (P654fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3317747	NM_001080517.3(SETD5):c.3896A>G (p.Tyr1299Cys)	SETD5 (Y1201C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317746	NM_001080517.3(SETD5):c.238G>A (p.Asp80Asn)	SETD5 (D80N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3317745	NM_001080517.3(SETD5):c.1499A>G (p.Gln500Arg)	SETD5 (Q500R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317744	NM_001080517.3(SETD5):c.3062C>T (p.Pro1021Leu)	SETD5 (P1021L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258042	NM_001080517.3(SETD5):c.3098del (p.Gly1032_Leu1033insTer)	SETD5	Deletion (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257556	NM_001080517.3(SETD5):c.3312T>G (p.Ser1104Arg)	SETD5 (S1006R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255211	NM_001080517.3(SETD5):c.567+1G>A	SETD5	Single nucleotide variant (splice donor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3255055	NM_001080517.3(SETD5):c.1039G>A (p.Ala347Thr)	SETD5 (A249T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3254886	NM_001080517.3(SETD5):c.2590_2591del (p.Lys864fs)	SETD5 (K766fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 3253207	NM_001080517.3(SETD5):c.1539_1542del (p.Arg513_Lys514insTer)	SETD5	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3253084	NM_001080517.3(SETD5):c.4079C>G (p.Ser1360Ter)	SETD5 (S1262* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3253056	NM_001080517.3(SETD5):c.1840C>T (p.Arg614Trp)	SETD5 (R516W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252150	NM_001080517.3(SETD5):c.2188A>G (p.Thr730Ala)	SETD5 (T632A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3235075	NM_001080517.3(SETD5):c.3044A>T (p.Asp1015Val)	SETD5 (D1015V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 3234942	NM_001080517.3(SETD5):c.1514A>C (p.His505Pro)	SETD5 (H407P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 3233478	NM_001080517.3(SETD5):c.3679A>G (p.Lys1227Glu)	SETD5 (K1129E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160684	NM_001080517.3(SETD5):c.417G>T (p.Trp139Cys)	SETD5 (W139C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160682	NM_001080517.3(SETD5):c.3427G>A (p.Val1143Ile)	SETD5 (V1045I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160681	NM_001080517.3(SETD5):c.3245C>G (p.Ser1082Cys)	SETD5 (S1082C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160679	NM_001080517.3(SETD5):c.2977A>C (p.Met993Leu)	SETD5 (M895L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160678	NM_001080517.3(SETD5):c.251C>A (p.Ser84Tyr)	SETD5 (S84Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160677	NM_001080517.3(SETD5):c.2279C>T (p.Ser760Leu)	SETD5 (S662L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160675	NM_001080517.3(SETD5):c.1892A>G (p.Lys631Arg)	SETD5 (K631R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160674	NM_001080517.3(SETD5):c.1736C>A (p.Thr579Asn)	SETD5 (T579N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3160673	NM_001080517.3(SETD5):c.1550C>T (p.Ala517Val)	SETD5 (A419V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068280	NM_001080517.3(SETD5):c.998_1010del (p.Gly333fs)	SETD5 (G235fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 3064046	NM_001080517.3(SETD5):c.651T>G (p.Tyr217Ter)	SETD5 (Y119* +1 more)	Single nucleotide variant (nonsense)	SETD5-related disorder	GLikely pathogenic
Select item 3064040	NM_001080517.3(SETD5):c.1401dup (p.Glu468fs)	SETD5 (E370fs +1 more)	Duplication (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Gnot provided
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3058080	NM_001080517.3(SETD5):c.3861C>T (p.His1287=)	SETD5	Single nucleotide variant (synonymous variant)	SETD5-related disorder	GLikely benign
Select item 3046250	NM_001080517.3(SETD5):c.1518C>G (p.Ser506Arg)	SETD5 (S408R +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3040849	NM_001080517.3(SETD5):c.567+934C>T	SETD5	Single nucleotide variant (intron variant)	SETD5-related disorder	GLikely benign
Select item 3031583	NM_001080517.3(SETD5):c.4186C>T (p.Gln1396Ter)	SETD5 (Q1298* +1 more)	Single nucleotide variant (nonsense)	SETD5-related disorder	GLikely pathogenic
Select item 3030652	NM_001080517.3(SETD5):c.189T>C (p.Pro63=)	SETD5	Single nucleotide variant (synonymous variant +1 more)	SETD5-related disorder	GLikely benign
Select item 3030353	NM_001080517.3(SETD5):c.3570G>T (p.Arg1190Ser)	SETD5 (R1092S +1 more)	Single nucleotide variant (missense variant)	SETD5-related disorder	GUncertain significance
Select item 3027285	NM_001080517.3(SETD5):c.1077+4A>G	SETD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3027220	NM_001080517.3(SETD5):c.1734C>T (p.Ser578=)	SETD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027172	NM_001080517.3(SETD5):c.2724+45C>T	SETD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3027121	NM_001080517.3(SETD5):c.4265T>A (p.Val1422Glu)	SETD5 (V1324E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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