ClinVar for Gene (Select 51202) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271331	NM_016355.4(DDX47):c.1262A>G (p.Lys421Arg)	DDX47 (K372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271330	NM_016355.4(DDX47):c.20A>G (p.His7Arg)	DDX47, LOC130007469 (H7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271329	NM_016355.4(DDX47):c.941G>A (p.Arg314His)	DDX47 (R314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271328	NM_016355.4(DDX47):c.634G>A (p.Val212Ile)	DDX47, LOC126861456 (V212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271326	NM_016355.4(DDX47):c.1363C>T (p.Arg455Cys)	DDX47 (R406C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081060	NM_016355.4(DDX47):c.952C>A (p.Leu318Ile)	DDX47 (L269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081059	NM_016355.4(DDX47):c.940C>T (p.Arg314Cys)	DDX47 (R314C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081058	NM_016355.4(DDX47):c.829C>G (p.Gln277Glu)	DDX47, LOC126861456 (Q277E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081057	NM_016355.4(DDX47):c.622A>G (p.Met208Val)	DDX47 (M208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081056	NM_016355.4(DDX47):c.554A>C (p.Glu185Ala)	DDX47 (E185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081054	NM_016355.4(DDX47):c.229G>A (p.Ala77Thr)	DDX47 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081053	NM_016355.4(DDX47):c.1271C>T (p.Ser424Leu)	DDX47 (S375L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081052	NM_016355.4(DDX47):c.1268G>A (p.Arg423His)	DDX47 (R423H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081051	NM_016355.4(DDX47):c.1248G>C (p.Glu416Asp)	DDX47 (E367D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081050	NM_016355.4(DDX47):c.1232G>A (p.Arg411Gln)	DDX47 (R411Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081049	NM_016355.4(DDX47):c.1227T>G (p.Phe409Leu)	DDX47 (F360L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081048	NM_016355.4(DDX47):c.1138C>T (p.His380Tyr)	DDX47 (H331Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2589554	NM_016355.4(DDX47):c.1274G>A (p.Arg425Gln)	DDX47 (R376Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558513	NM_016355.4(DDX47):c.854A>G (p.Asn285Ser)	DDX47, LOC126861456 (N285S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2467933	NM_016355.4(DDX47):c.475A>G (p.Asn159Asp)	DDX47 (N159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455373	NM_016355.4(DDX47):c.682G>A (p.Val228Ile)	DDX47, LOC126861456 (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2409387	NM_016355.4(DDX47):c.185G>A (p.Arg62His)	DDX47 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395709	NM_016355.4(DDX47):c.680C>T (p.Ala227Val)	DDX47, LOC126861456 (A227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384260	NM_016355.4(DDX47):c.418G>A (p.Ala140Thr)	DDX47 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366316	NM_016355.4(DDX47):c.44A>C (p.Gln15Pro)	DDX47, LOC130007469 (Q15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359554	NM_016355.4(DDX47):c.894T>A (p.Ser298Arg)	DDX47, LOC126861456 (S298R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357088	NM_016355.4(DDX47):c.1010A>G (p.Asn337Ser)	DDX47 (N288S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354793	NM_016355.4(DDX47):c.1090A>G (p.Ile364Val)	DDX47 (I364V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2347383	NM_016355.4(DDX47):c.988C>A (p.Pro330Thr)	DDX47 (P281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341298	NM_016355.4(DDX47):c.1339G>A (p.Gly447Arg)	DDX47 (G398R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331505	NM_016355.4(DDX47):c.595C>T (p.Arg199Trp)	DDX47 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299087	NM_016355.4(DDX47):c.304C>T (p.Arg102Trp)	DDX47 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285705	NM_016355.4(DDX47):c.1219C>G (p.Gln407Glu)	DDX47 (Q407E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285704	NM_016355.4(DDX47):c.1174C>G (p.Gln392Glu)	DDX47 (Q392E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261659	NM_016355.4(DDX47):c.820A>G (p.Asn274Asp)	DDX47, LOC126861456 (N274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259213	NM_016355.4(DDX47):c.13G>A (p.Glu5Lys)	DDX47, LOC130007469 (E5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252037	NM_016355.4(DDX47):c.1130G>A (p.Arg377His)	DDX47 (R328H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235243	NM_016355.4(DDX47):c.971G>C (p.Ser324Thr)	DDX47 (S275T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229774	NM_016355.4(DDX47):c.1140C>G (p.His380Gln)	DDX47 (H331Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229715	NM_016355.4(DDX47):c.904C>T (p.Arg302Cys)	DDX47 (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208624	NM_016355.4(DDX47):c.1193T>C (p.Met398Thr)	DDX47 (M349T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 981910	NM_016355.4(DDX47):c.1129C>A (p.Arg377Ser)	DDX47 (R328S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 831584	NC_000012.12:g.(?_12717002)_(13982130_?)del	APOLD1, CDKN1B +8 more	Deletion	Developmental and epileptic encephalopathy, 27 +1 more	GPathogenic
Select item 831573	NC_000012.12:g.(?_12717002)_(13982130_?)dup	APOLD1, CDKN1B +8 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 815507	GRCh37/hg19 12p13.1(chr12:12908649-12978616)x1	DDX47, APOLD1	Copy number loss	not provided	GLikely benign
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688830	GRCh37/hg19 12p13.1(chr12:12929249-13022464)x3	APOLD1, DDX47	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 88