3772[Gene ID] - ClinVar

Search results

Items: 99

	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 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 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	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 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 3113326	NM_170736.3(KCNJ15):c.4G>T (p.Asp2Tyr)	KCNJ15 (D2Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234329	NM_170736.3(KCNJ15):c.8C>T (p.Ala3Val)	KCNJ15 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623600	NM_170736.3(KCNJ15):c.10A>T (p.Ile4Phe)	KCNJ15 (I4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770817	NM_170736.3(KCNJ15):c.16A>G (p.Ile6Val)	KCNJ15 (I6V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3113324	NM_170736.3(KCNJ15):c.19G>A (p.Gly7Ser)	KCNJ15 (G7S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293160	NM_170736.3(KCNJ15):c.29G>A (p.Ser10Asn)	KCNJ15 (S10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287642	NM_170736.3(KCNJ15):c.62G>T (p.Gly21Val)	KCNJ15 (G21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287646	NM_170736.3(KCNJ15):c.68A>G (p.Lys23Arg)	KCNJ15 (K23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212571	NM_170736.3(KCNJ15):c.73A>T (p.Asn25Tyr)	KCNJ15 (N25Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603005	NM_170736.3(KCNJ15):c.122A>G (p.Asp41Gly)	KCNJ15 (D41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113325	NM_170736.3(KCNJ15):c.311A>G (p.His104Arg)	KCNJ15 (H104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486413	NM_170736.3(KCNJ15):c.421C>T (p.His141Tyr)	KCNJ15 (H141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287643	NM_170736.3(KCNJ15):c.505G>A (p.Ala169Thr)	KCNJ15 (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113327	NM_170736.3(KCNJ15):c.521G>A (p.Arg174Gln)	KCNJ15 (R174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488312	NM_170736.3(KCNJ15):c.601A>G (p.Asn201Asp)	KCNJ15 (N201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113328	NM_170736.3(KCNJ15):c.616C>T (p.Leu206Phe)	KCNJ15 (L206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113329	NM_170736.3(KCNJ15):c.660C>G (p.His220Gln)	KCNJ15 (H220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113330	NM_170736.3(KCNJ15):c.679C>T (p.Arg227Trp)	KCNJ15 (R227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560031	NM_170736.3(KCNJ15):c.805C>A (p.Pro269Thr)	KCNJ15 (P269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287644	NM_170736.3(KCNJ15):c.851A>G (p.Asn284Ser)	KCNJ15 (N284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113331	NM_170736.3(KCNJ15):c.949C>G (p.Leu317Val)	KCNJ15 (L317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113332	NM_170736.3(KCNJ15):c.991G>A (p.Glu331Lys)	KCNJ15 (E331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215204	NM_170736.3(KCNJ15):c.1010C>A (p.Pro337Gln)	KCNJ15 (P337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287645	NM_170736.3(KCNJ15):c.1016G>T (p.Cys339Phe)	KCNJ15 (C339F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238653	NM_170736.3(KCNJ15):c.1027T>C (p.Cys343Arg)	KCNJ15 (C343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113323	NM_170736.3(KCNJ15):c.1029T>G (p.Cys343Trp)	KCNJ15 (C343W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542689	NM_170736.3(KCNJ15):c.1036T>A (p.Ser346Thr)	KCNJ15 (S346T)	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 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 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 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 816167	GRCh37/hg19 21q22.13(chr21:39602066-39667589)x1	KCNJ15	Copy number loss	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 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 564646	GRCh37/hg19 21q22.13(chr21:39593444-39646635)x1	KCNJ15	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 442558	GRCh37/hg19 21q22.13(chr21:38990885-39697938)x3	DSCR4, DSCR8 +2 more	Copy number gain	See cases	GLikely benign
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 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 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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Items: 99