ClinVar for Gene (Select 2078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276326	NM_182918.4(ERG):c.244C>A (p.Pro82Thr)	ERG (P89T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276325	NM_182918.4(ERG):c.302G>A (p.Gly101Glu)	ERG (G9E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276324	NM_182918.4(ERG):c.289C>G (p.Pro97Ala)	ERG (P97A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276323	NM_182918.4(ERG):c.240C>A (p.Asn80Lys)	ERG (N80K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3090151	NM_182918.4(ERG):c.760C>T (p.Pro254Ser)	ERG (P230S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090150	NM_182918.4(ERG):c.347C>G (p.Pro116Arg)	ERG (P123R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090149	NM_001243428.1(ERG):c.17C>T (p.Pro6Leu)	ERG (P6L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	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 2652663	NM_004449.4(ERG):c.40-56923A>G	ERG, LOC111099028	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2637921	NM_182918.4(ERG):c.543del (p.Ser182fs)	ERG (S182fs +2 more)	Deletion (frameshift variant)	Lymphatic malformation 14	GPathogenic
Select item 2637894	NM_182918.4(ERG):c.671_672del (p.Thr224fs)	ERG (T132fs +2 more)	Microsatellite (frameshift variant)	Lymphatic malformation 14	GPathogenic
Select item 2637893	NM_182918.4(ERG):c.1388del (p.Asn463fs)	ERG (N347fs +5 more)	Deletion (frameshift variant +1 more)	Lymphatic malformation 14	GPathogenic
Select item 2605996	NM_182918.4(ERG):c.359C>A (p.Thr120Lys)	ERG (T28K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597120	NM_182918.4(ERG):c.808T>A (p.Ser270Thr)	ERG (S246T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580269	NM_182918.4(ERG):c.571_572insGGA (p.His191delinsArgAsn)	ERG	Insertion (inframe_indel)	Acute lymphoid leukemia	GUncertain significance
Select item 2580268	NM_182918.4(ERG):c.1088A>G (p.Asp363Gly)	ERG (D247G +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580267	NM_182918.4(ERG):c.1087G>A (p.Asp363Asn)	ERG (D247N +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580266	NM_182918.4(ERG):c.1102G>A (p.Ala368Thr)	ERG (A252T +5 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 2580265	NM_182918.4(ERG):c.657G>A (p.Met219Ile)	ERG (M127I +2 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia	GUncertain significance
Select item 2543007	NM_182918.4(ERG):c.677G>T (p.Gly226Val)	ERG (G134V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521830	NM_182918.4(ERG):c.1405A>G (p.Ser469Gly)	ERG (S353G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401390	NM_182918.4(ERG):c.1297C>T (p.Pro433Ser)	ERG (P317S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393893	NM_182918.4(ERG):c.481C>G (p.Gln161Glu)	ERG (Q168E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347190	NM_182918.4(ERG):c.254G>A (p.Cys85Tyr)	ERG (C85Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327905	NM_182918.4(ERG):c.260T>C (p.Val87Ala)	ERG (V94A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323869	NM_182918.4(ERG):c.110C>T (p.Ser37Phe)	ERG (S37F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257665	NM_182918.4(ERG):c.1306C>T (p.Pro436Ser)	ERG (P419S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236261	NM_182918.4(ERG):c.118G>A (p.Asp40Asn)	ERG (D47N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 1341220	GRCh37/hg19 21q22.2(chr21:39892114-40905632)x1	BRWD1, ERG +7 more	Copy number loss	not provided	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 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1176763	NM_182918.4(ERG):c.363C>T (p.Asn121=)	ERG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 980235	GRCh37/hg19 21q22.13-22.2(chr21:39270345-41091831)x1	PSMG1, ERG +12 more	Copy number loss	not provided	GUncertain significance
Select item 816168	GRCh37/hg19 21q22.2(chr21:40031679-40332821)x3	ERG, ETS2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 690369	t(21;22)(q21;q12)	ERG, EWSR1	Translocation	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 686706	GRCh37/hg19 21q22.2(chr21:39725955-40634132)x1	BRWD1, ERG +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 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	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 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443777	GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	B3GALT5, BRWD1 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 395335	GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1	B3GALT5, BRWD1 +21 more	Copy number loss	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 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 more	Copy number loss	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 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	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 204003	GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)	ERG, ETS2 +23 more	Copy number loss	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 204002	GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)	LINC00114, DSCR8 +6 more	Copy number loss	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 162157	NC_000021.8:g.(?_38007970)_(39747620_?)del	DSCR4, DSCR8 +10 more	Deletion	Absent or delayed speech development +5 more	GPathogenic
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 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	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 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 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 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	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 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 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 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 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 59041	GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1	DSCR10, DSCR4 +31 more	Copy number loss	See cases	GPathogenic
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic

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