ART4[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 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 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
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 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 3316811	NM_021071.4(ART4):c.914G>A (p.Ser305Asn)	ART4 (S305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060827	NM_021071.4(ART4):c.898C>G (p.Leu300Val)	ART4 (L300V)	Single nucleotide variant (missense variant)	ART4-related disorder	GBenign
Select item 2595351	NM_021071.4(ART4):c.871A>C (p.Ile291Leu)	ART4 (I291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516653	NM_021071.4(ART4):c.814A>G (p.Thr272Ala)	ART4 (T272A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 17730	NM_021071.4(ART4):c.793G>A (p.Asp265Asn)	ART4 (D265N)	Single nucleotide variant (missense variant)	ART4-related disorder +1 more	GBenign; Affects
Select item 3316799	NM_021071.4(ART4):c.739A>T (p.Ile247Phe)	ART4 (I247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221489	NM_021071.4(ART4):c.706G>A (p.Val236Ile)	ART4 (V236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059324	NM_021071.4(ART4):c.624C>T (p.Leu208=)	ART4	Single nucleotide variant (synonymous variant)	ART4-related disorder	GBenign
Select item 2607145	NM_021071.4(ART4):c.512G>C (p.Arg171Thr)	ART4 (R171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129961	NM_021071.4(ART4):c.479A>G (p.His160Arg)	ART4 (H160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17734	NM_021071.4(ART4):c.442C>T (p.Gln148Ter)	ART4 (Q148*)	Single nucleotide variant (nonsense)	Blood group, Dombrock system	GAffects
Select item 3060314	NM_021071.4(ART4):c.378T>C (p.Tyr126=)	ART4	Single nucleotide variant (synonymous variant)	ART4-related disorder	GBenign
Select item 17732	NM_021071.4(ART4):c.343_350del (p.Met115fs)	ART4 (M115fs)	Deletion (frameshift variant)	Blood group, Dombrock system	GAffects
Select item 2478813	NM_021071.4(ART4):c.251C>T (p.Thr84Ile)	ART4 (T84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129960	NM_021071.4(ART4):c.166G>A (p.Asp56Asn)	ART4 (D56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129959	NM_021071.4(ART4):c.164T>C (p.Phe55Ser)	ART4 (F55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316789	NM_021071.4(ART4):c.160G>A (p.Asp54Asn)	ART4 (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17731	NM_021071.4(ART4):c.145-2A>G	ART4	Single nucleotide variant (splice acceptor variant)	Blood group, Dombrock system	GAffects
Select item 17733	NM_021071.4(ART4):c.144+2T>C	ART4	Single nucleotide variant (splice donor variant)	Blood group, Dombrock system	GAffects
Select item 3129962	NM_021071.4(ART4):c.73T>C (p.Trp25Arg)	ART4 (W25R)	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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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 1440295	NC_000012.11:g.(?_14849146)_(15669910_?)dup	RERG, SMCO3 +11 more	Duplication	not provided	GUncertain significance
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 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 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 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 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 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 58