ClinVar for Gene (Select 2114) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276601	NM_005239.6(ETS2):c.691A>C (p.Ser231Arg)	ETS2 (S371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276600	NM_005239.6(ETS2):c.728G>A (p.Arg243Gln)	ETS2 (R383Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276599	NM_005239.6(ETS2):c.697G>C (p.Glu233Gln)	ETS2 (E233Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276597	NM_005239.6(ETS2):c.397G>A (p.Gly133Ser)	ETS2, LOC126653370 (G133S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276596	NM_005239.6(ETS2):c.985A>G (p.Met329Val)	ETS2 (M329V +1 more)	Single nucleotide variant (missense variant)	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 3090724	NM_005239.6(ETS2):c.986T>A (p.Met329Lys)	ETS2 (M469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090723	NM_005239.6(ETS2):c.847G>A (p.Ala283Thr)	ETS2 (A283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090722	NM_005239.6(ETS2):c.700C>G (p.Gln234Glu)	ETS2 (Q234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090721	NM_005239.6(ETS2):c.668C>T (p.Pro223Leu)	ETS2 (P223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090720	NM_005239.6(ETS2):c.335G>A (p.Cys112Tyr)	ETS2, LOC126653370 (C252Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090719	NM_005239.6(ETS2):c.283C>T (p.Arg95Trp)	ETS2, LOC126653370 (R235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090718	NM_005239.6(ETS2):c.1127A>G (p.Lys376Arg)	ETS2 (K376R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090717	NM_005239.6(ETS2):c.1072A>G (p.Thr358Ala)	ETS2 (T358A +1 more)	Single nucleotide variant (missense variant)	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 2623070	NM_005239.6(ETS2):c.655G>A (p.Asp219Asn)	ETS2 (D219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601519	NM_005239.6(ETS2):c.237G>A (p.Met79Ile)	ETS2, LOC126653370 (M219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478530	NM_005239.6(ETS2):c.1301C>T (p.Ser434Leu)	ETS2 (S574L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468772	NM_005239.6(ETS2):c.566A>G (p.His189Arg)	ETS2 (H189R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466717	NM_005239.6(ETS2):c.74G>A (p.Arg25His)	ETS2 (R165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466668	NM_005239.6(ETS2):c.1057G>A (p.Val353Met)	ETS2 (V353M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408031	NM_005239.6(ETS2):c.739G>A (p.Val247Ile)	ETS2 (V247I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395645	NM_005239.6(ETS2):c.685G>A (p.Val229Ile)	ETS2 (V229I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369888	NM_005239.6(ETS2):c.1066G>A (p.Gly356Ser)	ETS2 (G496S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353264	NM_005239.6(ETS2):c.284G>A (p.Arg95Gln)	ETS2, LOC126653370 (R95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293042	NM_005239.6(ETS2):c.979C>T (p.Pro327Ser)	ETS2 (P327S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280120	NM_005239.6(ETS2):c.848C>T (p.Ala283Val)	ETS2 (A283V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265649	NM_005239.6(ETS2):c.859G>C (p.Glu287Gln)	ETS2 (E427Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248234	NM_005239.6(ETS2):c.196T>C (p.Cys66Arg)	ETS2, LOC126653370 (C206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240240	NM_005239.6(ETS2):c.718C>T (p.Pro240Ser)	ETS2 (P240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220263	NM_005239.6(ETS2):c.621G>A (p.Met207Ile)	ETS2 (M347I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219789	NM_005239.6(ETS2):c.614A>T (p.Tyr205Phe)	ETS2 (Y345F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213533	NM_005239.6(ETS2):c.73C>T (p.Arg25Cys)	ETS2 (R165C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808857	GRCh37/hg19 21q22.2(chr21:40075873-40390955)x3	ETS2, LINC00114	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 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 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 786688	NM_005239.6(ETS2):c.190G>A (p.Ala64Thr)	ETS2, LOC126653370 (A204T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783879	NM_005239.6(ETS2):c.1179C>T (p.Leu393=)	ETS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780076	NM_005239.6(ETS2):c.649C>A (p.Leu217Ile)	ETS2 (L357I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771783	NM_005239.6(ETS2):c.243A>G (p.Gln81=)	ETS2, LOC126653370	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 688095	GRCh37/hg19 21q22.2(chr21:40067081-40841948)x3	BRWD1, ETS2 +6 more	Copy number gain	not provided	GUncertain significance
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 564668	GRCh37/hg19 21q22.2(chr21:40039202-41278694)x1	LCA5L, SH3BGR +9 more	Copy number loss	not provided	GUncertain significance
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 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 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 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 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

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