ClinVar for Gene (Select 203054) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384214	Single allele	LOC101928902, LOC105375798 +289 more	Duplication	Recombinant 8 syndrome	GLikely pathogenic
Select item 3269161	NM_174922.5(ADCK5):c.1238G>C (p.Arg413Thr)	ADCK5 (R413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269150	NM_174922.5(ADCK5):c.1624G>A (p.Glu542Lys)	ADCK5 (E542K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269140	NM_174922.5(ADCK5):c.1120G>A (p.Gly374Arg)	ADCK5 (G374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269129	NM_174922.5(ADCK5):c.1250C>A (p.Ala417Asp)	ADCK5 (A417D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269119	NM_174922.5(ADCK5):c.1693C>G (p.Leu565Val)	ADCK5 (L565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269111	NM_174922.5(ADCK5):c.71C>A (p.Ser24Tyr)	ADCK5 (S24Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269104	NM_174922.5(ADCK5):c.1442T>C (p.Leu481Pro)	ADCK5 (L481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269093	NM_174922.5(ADCK5):c.1400T>C (p.Met467Thr)	ADCK5 (M467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269083	NM_174922.5(ADCK5):c.1532G>A (p.Gly511Asp)	ADCK5 (G511D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269075	NM_174922.5(ADCK5):c.1070T>C (p.Ile357Thr)	ADCK5 (I357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269073	NM_174922.5(ADCK5):c.287A>G (p.Gln96Arg)	ADCK5 (Q96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269070	NM_174922.5(ADCK5):c.161C>T (p.Ala54Val)	ADCK5 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269069	NM_174922.5(ADCK5):c.1702G>T (p.Val568Leu)	ADCK5 (V568L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3081024	NM_174922.5(ADCK5):c.998G>A (p.Gly333Glu)	ADCK5 (G333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081013	NM_174922.5(ADCK5):c.94A>T (p.Asn32Tyr)	ADCK5 (N32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081000	NM_174922.5(ADCK5):c.353G>C (p.Gly118Ala)	ADCK5 (G118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080994	NM_174922.5(ADCK5):c.350C>T (p.Pro117Leu)	ADCK5 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080992	NM_174922.5(ADCK5):c.235C>T (p.Leu79Phe)	ADCK5 (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080987	NM_174922.5(ADCK5):c.1638G>A (p.Arg546=)	ADCK5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3080985	NM_174922.5(ADCK5):c.1594G>A (p.Ala532Thr)	ADCK5 (A532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080983	NM_174922.5(ADCK5):c.158C>T (p.Thr53Ile)	ADCK5 (T53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080972	NM_174922.5(ADCK5):c.1474G>A (p.Val492Met)	ADCK5 (V492M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080967	NM_174922.5(ADCK5):c.1438G>C (p.Val480Leu)	ADCK5 (V480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	ANXA13, AARD +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2624248	NM_174922.5(ADCK5):c.46C>A (p.His16Asn)	ADCK5 (H16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549586	NM_174922.5(ADCK5):c.718G>A (p.Gly240Arg)	ADCK5 (G240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538721	NM_174922.5(ADCK5):c.1108A>C (p.Lys370Gln)	ADCK5 (K370Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519792	NM_174922.5(ADCK5):c.1115C>T (p.Pro372Leu)	ADCK5 (P372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495160	NM_174922.5(ADCK5):c.11C>G (p.Pro4Arg)	ADCK5, LOC130001392 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491539	NM_174922.5(ADCK5):c.1236G>A (p.Met412Ile)	ADCK5 (M412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478320	NM_174922.5(ADCK5):c.1296G>A (p.Met432Ile)	ADCK5 (M432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459603	NM_174922.5(ADCK5):c.1171G>A (p.Glu391Lys)	ADCK5 (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404220	NM_174922.5(ADCK5):c.1226A>C (p.Asp409Ala)	ADCK5 (D409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397489	NM_174922.5(ADCK5):c.131C>A (p.Thr44Lys)	ADCK5 (T44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339224	NM_174922.5(ADCK5):c.988A>G (p.Arg330Gly)	ADCK5 (R330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337309	NM_174922.5(ADCK5):c.1261G>T (p.Val421Leu)	ADCK5 (V421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333146	NM_174922.5(ADCK5):c.869G>A (p.Arg290Gln)	ADCK5 (R290Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316515	NM_174922.5(ADCK5):c.1510A>G (p.Met504Val)	ADCK5 (M504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285205	NM_174922.5(ADCK5):c.1190T>A (p.Leu397His)	ADCK5 (L397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268630	NM_174922.5(ADCK5):c.1397T>C (p.Val466Ala)	ADCK5 (V466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260015	NM_174922.5(ADCK5):c.491C>T (p.Thr164Ile)	ADCK5 (T164I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256289	NM_174922.5(ADCK5):c.1573G>A (p.Gly525Ser)	ADCK5 (G525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249033	NM_174922.5(ADCK5):c.1016T>C (p.Ile339Thr)	ADCK5 (I339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216074	NM_174922.5(ADCK5):c.992G>A (p.Ser331Asn)	ADCK5 (S331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	TONSL, VPS28 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 980336	GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3	MIR1234, PPP1R16A +19 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815179	GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3	ADCK5, BOP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 685411	GRCh37/hg19 8q24.3(chr8:145603133-145695493)x3	ADCK5, CPSF1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	ADCK5, BOP1 +28 more	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	ADCK5, BOP1 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 253782	GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance
Select item 219037	GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2