3044[HGNC] - ClinVar

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Items: 96

	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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	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 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	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 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 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 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 149278	GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1	DSCR9, LOC111556145 +19 more	Copy number loss	See cases	GLikely benign
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 3188884	NM_006052.2(VPS26C):c.829G>A (p.Val277Met)	VPS26C (V152M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176761	NM_006052.2(VPS26C):c.808G>A (p.Val270Met)	VPS26C (V145M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3332228	NM_006052.2(VPS26C):c.715G>A (p.Asp239Asn)	VPS26C (D114N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188882	NM_006052.2(VPS26C):c.703A>G (p.Ile235Val)	VPS26C (I110V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617674	NM_006052.2(VPS26C):c.680G>A (p.Arg227His)	VPS26C (R227H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188881	NM_006052.2(VPS26C):c.659G>A (p.Gly220Glu)	VPS26C (G172E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188879	NM_006052.2(VPS26C):c.644G>A (p.Arg215His)	VPS26C (R188H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460700	NM_006052.2(VPS26C):c.625G>A (p.Val209Met)	VPS26C (V84M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188878	NM_006052.2(VPS26C):c.569C>T (p.Thr190Met)	VPS26C (T163M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188877	NM_006052.2(VPS26C):c.536G>A (p.Arg179Gln)	VPS26C (R131Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188876	NM_006052.2(VPS26C):c.473C>T (p.Thr158Met)	VPS26C (T33M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188875	NM_006052.2(VPS26C):c.460C>G (p.Pro154Ala)	VPS26C (P127A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188874	NM_006052.2(VPS26C):c.376C>T (p.Arg126Trp)	VPS26C (R126W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188873	NM_006052.2(VPS26C):c.214A>G (p.Ile72Val)	VPS26C (I24V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188872	NM_006052.2(VPS26C):c.212T>C (p.Ile71Thr)	VPS26C (I23T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188870	NM_006052.2(VPS26C):c.210G>T (p.Gln70His)	VPS26C (Q70H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466239	NM_006052.2(VPS26C):c.207C>G (p.Ile69Met)	VPS26C (I21M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332226	NM_006052.2(VPS26C):c.196G>A (p.Val66Ile)	VPS26C (V66I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974902	NM_006052.2(VPS26C):c.178G>T (p.Glu60Ter)	VPS26C	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3188885	NM_006052.2(VPS26C):c.86C>T (p.Ser29Leu)	VPS26C (S29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034062	NM_006052.2(VPS26C):c.82A>G (p.Ile28Val)	VPS26C (I28V)	Single nucleotide variant (missense variant +1 more)	VPS26C-related disorder	GLikely benign
Select item 3188883	NM_006052.2(VPS26C):c.74T>C (p.Val25Ala)	VPS26C (V25A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332227	NM_006052.2(VPS26C):c.73G>A (p.Val25Met)	VPS26C (V25M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188869	NM_006052.2(VPS26C):c.11C>A (p.Ala4Asp)	VPS26C (A4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475388	NM_006052.2(VPS26C):c.5G>A (p.Gly2Glu)	VPS26C (G2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	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 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 1808856	GRCh37/hg19 21q22.13(chr21:38131869-38787404)x3	DYRK1A, HLCS +4 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 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 1412731	NC_000021.8:g.(?_37507491)_(39212984_?)dup	CBR3, CHAF1B +11 more	Duplication	not provided	GUncertain significance
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	ATP5PO, CBR1 +48 more	Duplication	Immunodeficiency 28 +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 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1061008	NC_000021.8:g.(?_37833274)_(39212984_?)dup	CLDN14, DYRK1A +7 more	Duplication	DYRK1A-related intellectual disability syndrome	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 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 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 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 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 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 162157	NC_000021.8:g.(?_38007970)_(39747620_?)del	DSCR4, DSCR8 +10 more	Deletion	Absent or delayed speech development +5 more	GPathogenic
Select item 59013	GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	ABCG1, B3GALT5 +56 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 96