13579[HGNC] - ClinVar - NCBI

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	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 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 2287864	NM_016631.4(PAXBP1):c.2708G>A (p.Ser903Asn)	PAXBP1, PAXBP1-AS1 (S903N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209001	NM_016631.4(PAXBP1):c.2558G>C (p.Cys853Ser)	PAXBP1, PAXBP1-AS1 (C853S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250886	NM_016631.4(PAXBP1):c.2468A>G (p.Lys823Arg)	PAXBP1, PAXBP1-AS1 (K823R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615965	NM_016631.4(PAXBP1):c.2319T>G (p.Phe773Leu)	PAXBP1 (F773L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652603	NM_016631.4(PAXBP1):c.2268-7dup	PAXBP1	Duplication (intron variant)	not provided	GLikely benign
Select item 3208999	NM_016631.4(PAXBP1):c.2214G>C (p.Leu738Phe)	PAXBP1 (L738F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777615	NM_016631.4(PAXBP1):c.2163A>C (p.Val721=)	PAXBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2546933	NM_016631.4(PAXBP1):c.1929A>C (p.Lys643Asn)	PAXBP1 (K643N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552005	NM_016631.4(PAXBP1):c.1880A>G (p.Asn627Ser)	PAXBP1 (N627S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340591	NM_016631.4(PAXBP1):c.1852A>G (p.Ile618Val)	PAXBP1 (I618V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606713	NM_016631.4(PAXBP1):c.1783A>G (p.Ile595Val)	PAXBP1 (I595V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521090	NM_016631.4(PAXBP1):c.1778A>G (p.Tyr593Cys)	PAXBP1 (Y593C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208998	NM_016631.4(PAXBP1):c.1643A>G (p.Lys548Arg)	PAXBP1 (K548R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337161	NM_016631.4(PAXBP1):c.1613G>A (p.Arg538His)	PAXBP1 (R538H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 619116	NM_016631.4(PAXBP1):c.1612C>T (p.Arg538Cys)	PAXBP1 (R538C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2226233	NM_016631.4(PAXBP1):c.1546C>T (p.Arg516Cys)	PAXBP1 (R516C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238277	NM_016631.4(PAXBP1):c.1540T>C (p.Phe514Leu)	PAXBP1 (F514L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304487	NM_016631.4(PAXBP1):c.1417C>T (p.His473Tyr)	PAXBP1 (H473Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304486	NM_016631.4(PAXBP1):c.1416A>G (p.Ile472Met)	PAXBP1 (I472M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304485	NM_016631.4(PAXBP1):c.1319G>A (p.Arg440Gln)	PAXBP1 (R440Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306248	NM_016631.4(PAXBP1):c.1259G>A (p.Arg420Gln)	PAXBP1 (R420Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304481	NM_016631.4(PAXBP1):c.1073C>T (p.Thr358Met)	PAXBP1 (T358M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209004	NM_016631.4(PAXBP1):c.894T>A (p.Asp298Glu)	PAXBP1 (D298E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209003	NM_016631.4(PAXBP1):c.811C>T (p.Arg271Cys)	PAXBP1 (R271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304489	NM_016631.4(PAXBP1):c.730C>T (p.His244Tyr)	PAXBP1 (H244Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304157	NM_016631.4(PAXBP1):c.661G>A (p.Asp221Asn)	PAXBP1 (D221N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304482	NM_016631.4(PAXBP1):c.643C>A (p.Arg215Ser)	PAXBP1 (R215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304480	NM_016631.4(PAXBP1):c.596A>C (p.Lys199Thr)	PAXBP1 (K199T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300916	NM_016631.4(PAXBP1):c.595A>C (p.Lys199Gln)	PAXBP1 (K199Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396606	NM_016631.4(PAXBP1):c.562G>A (p.Asp188Asn)	PAXBP1 (D188N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304484	NM_016631.4(PAXBP1):c.485T>G (p.Leu162Trp)	PAXBP1 (L162W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623401	NM_016631.4(PAXBP1):c.485T>C (p.Leu162Ser)	PAXBP1 (L162S)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 2410543	NM_016631.4(PAXBP1):c.473G>A (p.Ser158Asn)	PAXBP1 (S158N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555175	NM_016631.4(PAXBP1):c.304C>G (p.Pro102Ala)	PAXBP1 (P102A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346282	NM_016631.4(PAXBP1):c.283C>T (p.Pro95Ser)	PAXBP1 (P95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534398	NM_016631.4(PAXBP1):c.232G>T (p.Gly78Cys)	PAXBP1 (G78C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2409537	NM_016631.4(PAXBP1):c.197C>T (p.Ala66Val)	PAXBP1 (A66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409536	NM_016631.4(PAXBP1):c.196G>T (p.Ala66Ser)	PAXBP1 (A66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230432	NM_016631.4(PAXBP1):c.184T>G (p.Ser62Ala)	PAXBP1 (S62A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492377	NM_016631.4(PAXBP1):c.182C>T (p.Pro61Leu)	PAXBP1 (P61L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2249406	NM_016631.4(PAXBP1):c.170T>G (p.Leu57Arg)	PAXBP1 (L57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235458	NM_016631.4(PAXBP1):c.163T>G (p.Ser55Ala)	PAXBP1 (S55A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610864	NM_016631.4(PAXBP1):c.158G>A (p.Gly53Glu)	PAXBP1 (G53E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397071	NM_016631.4(PAXBP1):c.122A>C (p.Glu41Ala)	PAXBP1 (E41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621071	NM_016631.4(PAXBP1):c.110G>A (p.Gly37Asp)	PAXBP1 (G37D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617698	NM_016631.4(PAXBP1):c.101C>A (p.Pro34Gln)	PAXBP1 (P34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304488	NM_016631.4(PAXBP1):c.78G>C (p.Glu26Asp)	PAXBP1 (E26D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365163	NM_016631.4(PAXBP1):c.58G>C (p.Glu20Gln)	PAXBP1 (E20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212926	NM_016631.4(PAXBP1):c.53A>G (p.Glu18Gly)	PAXBP1 (E18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209000	NM_016631.4(PAXBP1):c.22G>T (p.Val8Leu)	PAXBP1 (V8L)	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 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 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 1711546	GRCh37/hg19 21q22.11(chr21:33032083-34809269)x3	CFAP298, EPCIP +17 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 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 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	EVA1C, OLIG2 +48 more	Duplication	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +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 1339970	GRCh37/hg19 21q22.11(chr21:32676376-35131913)x3	C21orf62, CFAP298 +24 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 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	ATP5PO, CFAP298 +33 more	Duplication	Early-onset Parkinson disease 20 +1 more	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 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic

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