EVA1C[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 59760	GRCh38/hg38 21q22.11(chr21:32338306-32536076)x3	EVA1C, LOC112694736 +7 more	Copy number gain	See cases	GBenign
Select item 3090797	NM_058187.5(EVA1C):c.43C>T (p.Pro15Ser)	EVA1C (P15S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347286	NM_058187.5(EVA1C):c.46G>A (p.Val16Met)	EVA1C (V16M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090799	NM_058187.5(EVA1C):c.64C>T (p.Arg22Cys)	EVA1C (R22C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2848841	NM_058187.5(EVA1C):c.67C>A (p.Arg23=)	EVA1C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2623844	NM_058187.5(EVA1C):c.74T>C (p.Val25Ala)	EVA1C (V25A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275165	NM_058187.5(EVA1C):c.124T>G (p.Cys42Gly)	EVA1C (C42G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090795	NM_058187.5(EVA1C):c.131A>T (p.Lys44Ile)	EVA1C (K44I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537716	NM_058187.5(EVA1C):c.208G>C (p.Gly70Arg)	EVA1C (G70R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2241526	NM_058187.5(EVA1C):c.227A>G (p.Gln76Arg)	EVA1C (Q76R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2479710	NM_058187.5(EVA1C):c.235C>T (p.Arg79Trp)	EVA1C (R79W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2236885	NM_058187.5(EVA1C):c.256C>G (p.Gln86Glu)	EVA1C (Q86E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3090796	NM_058187.5(EVA1C):c.409A>T (p.Ser137Cys)	EVA1C (S42C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214125	NM_058187.5(EVA1C):c.412C>T (p.Arg138Cys)	EVA1C (R138C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356874	NM_058187.5(EVA1C):c.413G>A (p.Arg138His)	EVA1C (R138H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090798	NM_058187.5(EVA1C):c.526C>G (p.Leu176Val)	EVA1C (L176V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276645	NM_058187.5(EVA1C):c.530A>G (p.His177Arg)	EVA1C (H177R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392170	NM_058187.5(EVA1C):c.628C>G (p.Pro210Ala)	EVA1C (P210A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382282	NM_058187.5(EVA1C):c.628C>A (p.Pro210Thr)	EVA1C (P115T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243044	NM_058187.5(EVA1C):c.629C>G (p.Pro210Arg)	EVA1C (P210R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787504	NM_058187.5(EVA1C):c.771C>T (p.Tyr257=)	EVA1C, LOC126653345	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2244650	NM_058187.5(EVA1C):c.772G>T (p.Ala258Ser)	EVA1C, LOC126653345 (A258S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405035	NM_058187.5(EVA1C):c.800C>T (p.Ala267Val)	EVA1C (A160V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276644	NM_058187.5(EVA1C):c.860G>A (p.Gly287Asp)	EVA1C (G192D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300381	NM_058187.5(EVA1C):c.868T>G (p.Phe290Val)	EVA1C (F183V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390022	NM_058187.5(EVA1C):c.943A>G (p.Ile315Val)	EVA1C (I208V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728811	NM_058187.5(EVA1C):c.950-5T>C	EVA1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090800	NM_058187.5(EVA1C):c.979G>A (p.Val327Met)	EVA1C (V220M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652600	NM_058187.5(EVA1C):c.1054C>T (p.Arg352Cys)	EVA1C (R245C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2269900	NM_058187.5(EVA1C):c.1054C>A (p.Arg352Ser)	EVA1C (R349S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302592	NM_058187.5(EVA1C):c.1057G>A (p.Asp353Asn)	EVA1C (D350N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613534	NM_058187.5(EVA1C):c.1172C>G (p.Ser391Trp)	EVA1C (S388W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386593	NM_058187.5(EVA1C):c.1181G>A (p.Cys394Tyr)	EVA1C (C394Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742166	NM_058187.5(EVA1C):c.1181G>T (p.Cys394Phe)	EVA1C (C287F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2304957	NM_058187.5(EVA1C):c.1215A>T (p.Glu405Asp)	EVA1C (E402D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276646	NM_058187.5(EVA1C):c.1263G>T (p.Gln421His)	EVA1C (Q418H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777058	NM_058187.5(EVA1C):c.1309A>G (p.Met437Val)	EVA1C (M342V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1711546	GRCh37/hg19 21q22.11(chr21:33032083-34809269)x3	CFAP298, EPCIP +17 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	KRTAP20-4, KRTAP21-1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	EPCIP, MRPS6 +48 more	Duplication	DYRK1A-related intellectual disability syndrome +3 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1339970	GRCh37/hg19 21q22.11(chr21:32676376-35131913)x3	C21orf62, CFAP298 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	ATP5PO, CFAP298 +33 more	Duplication	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
Select item 816161	GRCh37/hg19 21q22.11(chr21:33645526-33925628)x3	MIS18A, MRAP +2 more	Copy number gain	not provided	GLikely benign
Select item 816159	GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1	CFAP298, EPCIP +43 more	Copy number loss	not provided	GPathogenic
Select item 687348	GRCh37/hg19 21q22.11(chr21:33450315-33967122)x1	EVA1C, MIS18A +3 more	Copy number loss	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 625736	GRCh37/hg19 21q22.11(chr21:32589903-35359935)	ATP5PO, C21orf62 +25 more	Copy number loss	not provided	GPathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253448	GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	C21orf62, IFNAR1 +24 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic

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Items: 97