DNAI4[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 149153	GRCh38/hg38 1p31.3(chr1:66616829-66948603)x1	DNAI4, DYNLT5 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3084317	NM_024763.5(DNAI4):c.2473C>G (p.Pro825Ala)	DNAI4 (P825A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470084	NM_024763.5(DNAI4):c.2370C>A (p.Asn790Lys)	DNAI4 (N790K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084316	NM_024763.5(DNAI4):c.2330A>G (p.His777Arg)	DNAI4 (H777R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487520	NM_024763.5(DNAI4):c.2282A>G (p.Tyr761Cys)	DNAI4 (Y761C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084315	NM_024763.5(DNAI4):c.2279C>T (p.Ser760Phe)	DNAI4 (S760F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084313	NM_024763.5(DNAI4):c.2216C>T (p.Pro739Leu)	DNAI4 (P739L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084312	NM_024763.5(DNAI4):c.2203G>C (p.Glu735Gln)	DNAI4 (E735Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084311	NM_024763.5(DNAI4):c.2176G>T (p.Asp726Tyr)	DNAI4 (D726Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273003	NM_024763.5(DNAI4):c.2168G>A (p.Cys723Tyr)	DNAI4 (C723Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084310	NM_024763.5(DNAI4):c.2136G>T (p.Trp712Cys)	DNAI4 (W712C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084308	NM_024763.5(DNAI4):c.2036G>A (p.Gly679Asp)	DNAI4 (G679D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084307	NM_024763.5(DNAI4):c.2025C>G (p.Ile675Met)	DNAI4 (I675M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476248	NM_024763.5(DNAI4):c.2018C>G (p.Thr673Arg)	DNAI4 (T673R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084306	NM_024763.5(DNAI4):c.1981G>A (p.Ala661Thr)	DNAI4 (A661T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495710	NM_024763.5(DNAI4):c.1979A>C (p.Gln660Pro)	DNAI4 (Q660P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272997	NM_024763.5(DNAI4):c.1951A>G (p.Lys651Glu)	DNAI4 (K651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273002	NM_024763.5(DNAI4):c.1937G>C (p.Gly646Ala)	DNAI4 (G646A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547339	NM_024763.5(DNAI4):c.1912A>G (p.Thr638Ala)	DNAI4 (T638A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084305	NM_024763.5(DNAI4):c.1880T>C (p.Leu627Pro)	DNAI4 (L627P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556434	NM_024763.5(DNAI4):c.1855T>G (p.Ser619Ala)	DNAI4 (S619A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272999	NM_024763.5(DNAI4):c.1850G>T (p.Arg617Ile)	DNAI4 (R617I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084304	NM_024763.5(DNAI4):c.1834A>G (p.Ile612Val)	DNAI4 (I612V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273005	NM_024763.5(DNAI4):c.1804G>A (p.Gly602Arg)	DNAI4 (G602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084303	NM_024763.5(DNAI4):c.1759C>T (p.Pro587Ser)	DNAI4 (P587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084302	NM_024763.5(DNAI4):c.1715T>A (p.Val572Asp)	DNAI4 (V572D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608905	NM_024763.5(DNAI4):c.1714G>A (p.Val572Ile)	DNAI4 (V572I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617324	NM_024763.5(DNAI4):c.1685C>T (p.Ala562Val)	DNAI4 (A562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460051	NM_024763.5(DNAI4):c.1682T>C (p.Ile561Thr)	DNAI4 (I561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084301	NM_024763.5(DNAI4):c.1660G>A (p.Val554Ile)	DNAI4 (V554I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084300	NM_024763.5(DNAI4):c.1637T>C (p.Ile546Thr)	DNAI4 (I546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607494	NM_024763.5(DNAI4):c.1612G>A (p.Gly538Arg)	DNAI4 (G538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273000	NM_024763.5(DNAI4):c.1514A>C (p.Tyr505Ser)	DNAI4 (Y505S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458259	NM_024763.5(DNAI4):c.1470C>A (p.Ser490Arg)	DNAI4 (S490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084299	NM_024763.5(DNAI4):c.1406C>T (p.Pro469Leu)	DNAI4 (P469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084298	NM_024763.5(DNAI4):c.1393G>C (p.Glu465Gln)	DNAI4 (E465Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084296	NM_024763.5(DNAI4):c.1388C>A (p.Ala463Glu)	DNAI4 (A463E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084295	NM_024763.5(DNAI4):c.1337A>G (p.His446Arg)	DNAI4 (H446R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084293	NM_024763.5(DNAI4):c.1251G>T (p.Gln417His)	DNAI4 (Q417H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084292	NM_024763.5(DNAI4):c.1196A>G (p.Lys399Arg)	DNAI4 (K399R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272998	NM_024763.5(DNAI4):c.1182A>G (p.Ile394Met)	DNAI4 (I394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084291	NM_024763.5(DNAI4):c.1163A>G (p.Glu388Gly)	DNAI4 (E388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084290	NM_024763.5(DNAI4):c.1141G>A (p.Ala381Thr)	DNAI4 (A381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084288	NM_024763.5(DNAI4):c.1084A>G (p.Thr362Ala)	DNAI4 (T362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084287	NM_024763.5(DNAI4):c.1013A>G (p.Gln338Arg)	DNAI4 (Q338R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 3084329	NM_024763.5(DNAI4):c.848A>G (p.Asn283Ser)	DNAI4 (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084327	NM_024763.5(DNAI4):c.664G>C (p.Ala222Pro)	DNAI4 (A222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084326	NM_024763.5(DNAI4):c.658A>G (p.Arg220Gly)	DNAI4 (R220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566849	NM_024763.5(DNAI4):c.644A>T (p.Asp215Val)	DNAI4 (D215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 3084325	NM_024763.5(DNAI4):c.627A>T (p.Arg209Ser)	DNAI4 (R209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084324	NM_024763.5(DNAI4):c.512C>T (p.Thr171Met)	DNAI4 (T171M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084323	NM_024763.5(DNAI4):c.504T>A (p.Asn168Lys)	DNAI4 (N168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084322	NM_024763.5(DNAI4):c.469A>G (p.Ile157Val)	DNAI4 (I157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084321	NM_024763.5(DNAI4):c.400C>A (p.Pro134Thr)	DNAI4 (P134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084320	NM_024763.5(DNAI4):c.389A>G (p.Tyr130Cys)	DNAI4 (Y130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084319	NM_024763.5(DNAI4):c.251C>A (p.Ala84Glu)	DNAI4 (A84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084314	NM_024763.5(DNAI4):c.223G>A (p.Ala75Thr)	DNAI4 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084294	NM_024763.5(DNAI4):c.127C>T (p.Pro43Ser)	DNAI4, LOC129930723 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084289	NM_024763.5(DNAI4):c.113T>C (p.Leu38Pro)	DNAI4 (L38P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084328	NM_024763.5(DNAI4):c.72C>A (p.Phe24Leu)	DNAI4 (F24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273004	NM_024763.5(DNAI4):c.50G>A (p.Gly17Glu)	DNAI4 (G17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 1808872	GRCh37/hg19 1p31.3(chr1:66815031-67319280)x3	DNAI4, DYNLT5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 221411	GRCh37/hg19 1p31.3(chr1:67327908-67519596)x3	DNAI4, MIER1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 89