2038[HGNC] - ClinVar

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Search results

Items: 88

	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 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 57030	GRCh38/hg38 21q21.3-22.11(chr21:29850105-30680142)x3	CLDN17, CLDN8 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2482065	NM_012131.3(CLDN17):c.542T>G (p.Leu181Arg)	CLDN17 (L181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360707	NM_012131.3(CLDN17):c.520G>C (p.Val174Leu)	CLDN17 (V174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267597	NM_012131.3(CLDN17):c.466G>A (p.Gly156Ser)	CLDN17 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145478	NM_012131.3(CLDN17):c.386C>T (p.Thr129Met)	CLDN17 (T129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267595	NM_012131.3(CLDN17):c.343A>G (p.Lys115Glu)	CLDN17 (K115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145477	NM_012131.3(CLDN17):c.263T>C (p.Val88Ala)	CLDN17 (V88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523840	NM_012131.3(CLDN17):c.250A>G (p.Met84Val)	CLDN17 (M84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145476	NM_012131.3(CLDN17):c.238G>C (p.Ala80Pro)	CLDN17 (A80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304191	NM_012131.3(CLDN17):c.235A>G (p.Thr79Ala)	CLDN17 (T79A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301965	NM_012131.3(CLDN17):c.218T>G (p.Leu73Arg)	CLDN17 (L73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145474	NM_012131.3(CLDN17):c.203G>A (p.Ser68Asn)	CLDN17 (S68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271889	NM_012131.3(CLDN17):c.186G>T (p.Leu62Phe)	CLDN17 (L62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370123	NM_012131.3(CLDN17):c.125T>C (p.Val42Ala)	CLDN17 (V42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216515	NM_012131.3(CLDN17):c.122T>A (p.Ile41Asn)	CLDN17 (I41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604206	NM_012131.3(CLDN17):c.95T>A (p.Val32Glu)	CLDN17 (V32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521435	NM_012131.3(CLDN17):c.71C>A (p.Thr24Lys)	CLDN17 (T24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145479	NM_012131.3(CLDN17):c.53T>G (p.Met18Arg)	CLDN17 (M18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237261	NM_012131.3(CLDN17):c.14C>A (p.Pro5His)	CLDN17 (P5H)	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 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 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 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 1809314	GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	LTN1, USP16 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1808192	GRCh37/hg19 21q21.3-22.11(chr21:30909762-32182012)x1	CLDN17, CLDN8 +30 more	Copy number loss	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 1526714	GRCh37/hg19 21q21.3-22.11(chr21:31263693-31555044)	GRIK1, CLDN17	Copy number loss	not specified	GUncertain significance
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 1341318	GRCh37/hg19 21q21.3-22.11(chr21:31119490-32485971)x1	KRTAP20-4, KRTAP21-1 +34 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 1341179	GRCh37/hg19 21q21.3-22.11(chr21:31171624-31891623)x3	CLDN17, CLDN8 +16 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 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980230	GRCh37/hg19 21q21.3-22.11(chr21:31119490-32484078)x1	KRTAP13-1, KRTAP13-2 +34 more	Copy number loss	not provided	GUncertain significance
Select item 929319	GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3	KRTAP19-6, KRTAP19-7 +26 more	Copy number gain	See cases	GUncertain significance
Select item 816158	GRCh37/hg19 21q21.3-22.11(chr21:31171624-31965248)x3	CLDN17, CLDN8 +20 more	Copy number gain	not provided	GUncertain significance
Select item 816157	GRCh37/hg19 21q21.3-22.11(chr21:31171624-32002762)x3	CLDN17, CLDN8 +25 more	Copy number gain	not provided	GLikely benign
Select item 816156	GRCh37/hg19 21q21.3-22.11(chr21:31166091-31690560)x1	GRIK1, CLDN17 +3 more	Copy number loss	not provided	GUncertain significance
Select item 816155	GRCh37/hg19 21q21.3-22.11(chr21:31153738-31637350)x1	GRIK1, CLDN8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816152	GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	ADAMTS1, ADAMTS5 +44 more	Copy number loss	not provided	GPathogenic
Select item 688452	GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3	CLDN17, CLDN8 +26 more	Copy number gain	not provided	GUncertain significance
Select item 686370	GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3	CLDN17, CLDN8 +26 more	Copy number gain	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 564664	GRCh37/hg19 21q21.3-22.11(chr21:31171624-31990799)x3	CLDN17, CLDN8 +24 more	Copy number gain	not provided	GUncertain significance
Select item 564660	GRCh37/hg19 21q21.3-22.11(chr21:31175434-31891623)x3	KRTAP13-4, KRTAP27-1 +16 more	Copy number gain	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 442320	GRCh37/hg19 21q21.3-22.11(chr21:31276879-32826955)x1	CLDN17, CLDN8 +35 more	Copy number loss	See cases	GLikely benign
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 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 88