HUNK[gene] - 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 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59011	GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	HUNK, LINC00159 +27 more	Copy number loss	See cases	GPathogenic
Select item 3107621	NM_014586.2(HUNK):c.11C>T (p.Ala4Val)	HUNK (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107631	NM_014586.2(HUNK):c.70G>C (p.Asp24His)	HUNK (D24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107635	NM_014586.2(HUNK):c.82C>T (p.Pro28Ser)	HUNK (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245863	NM_014586.2(HUNK):c.113C>T (p.Pro38Leu)	HUNK (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107626	NM_014586.2(HUNK):c.158A>C (p.Gln53Pro)	HUNK (Q53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256379	NM_014586.2(HUNK):c.224A>G (p.Lys75Arg)	HUNK (K75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107630	NM_014586.2(HUNK):c.287A>G (p.Lys96Arg)	HUNK (K96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312295	NM_014586.2(HUNK):c.407A>G (p.Tyr136Cys)	HUNK (Y136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366793	NM_014586.2(HUNK):c.469C>T (p.Arg157Trp)	HUNK (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310443	NM_014586.2(HUNK):c.475G>A (p.Glu159Lys)	HUNK (E159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531979	NM_014586.2(HUNK):c.491G>A (p.Arg164His)	HUNK (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285079	NM_014586.2(HUNK):c.535C>T (p.Arg179Trp)	HUNK (R179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300259	NM_014586.2(HUNK):c.541G>A (p.Gly181Arg)	HUNK (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320943	NM_014586.2(HUNK):c.551A>T (p.His184Leu)	HUNK (H184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512528	NM_014586.2(HUNK):c.656C>T (p.Pro219Leu)	HUNK (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334526	NM_014586.2(HUNK):c.725C>G (p.Pro242Arg)	HUNK (P242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351049	NM_014586.2(HUNK):c.779C>T (p.Thr260Met)	HUNK (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107634	NM_014586.2(HUNK):c.814G>T (p.Ala272Ser)	HUNK (A272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520219	NM_014586.2(HUNK):c.860C>T (p.Thr287Ile)	HUNK (T287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316570	NM_014586.2(HUNK):c.902T>C (p.Leu301Pro)	HUNK (L301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107636	NM_014586.2(HUNK):c.952C>T (p.Arg318Cys)	HUNK (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276789	NM_014586.2(HUNK):c.983T>C (p.Val328Ala)	HUNK (V328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609811	NM_014586.2(HUNK):c.988T>C (p.Cys330Arg)	HUNK (C330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239455	NM_014586.2(HUNK):c.1007A>G (p.Asn336Ser)	HUNK (N336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107620	NM_014586.2(HUNK):c.1034C>T (p.Pro345Leu)	HUNK (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271621	NM_014586.2(HUNK):c.1166T>G (p.Leu389Trp)	HUNK (L389W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107622	NM_014586.2(HUNK):c.1240C>T (p.Pro414Ser)	HUNK (P414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107623	NM_014586.2(HUNK):c.1244A>G (p.Lys415Arg)	HUNK (K415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209802	NM_014586.2(HUNK):c.1253A>G (p.Tyr418Cys)	HUNK (Y418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107624	NM_014586.2(HUNK):c.1277C>T (p.Thr426Ile)	HUNK (T426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652590	NM_014586.2(HUNK):c.1280G>A (p.Arg427Gln)	HUNK (R427Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2236487	NM_014586.2(HUNK):c.1285C>G (p.Leu429Val)	HUNK (L429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107625	NM_014586.2(HUNK):c.1300G>A (p.Val434Met)	HUNK (V434M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285082	NM_014586.2(HUNK):c.1403C>T (p.Ser468Leu)	HUNK (S468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605006	NM_014586.2(HUNK):c.1454G>A (p.Arg485Gln)	HUNK (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268692	NM_014586.2(HUNK):c.1525G>T (p.Asp509Tyr)	HUNK (D509Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652591	NM_014586.2(HUNK):c.1539G>C (p.Val513=)	HUNK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301339	NM_014586.2(HUNK):c.1573C>G (p.Pro525Ala)	HUNK (P525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285080	NM_014586.2(HUNK):c.1627G>A (p.Gly543Arg)	HUNK (G543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557433	NM_014586.2(HUNK):c.1658C>T (p.Pro553Leu)	HUNK (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107628	NM_014586.2(HUNK):c.1710C>G (p.His570Gln)	HUNK (H570Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456843	NM_014586.2(HUNK):c.1751A>T (p.Asn584Ile)	HUNK (N584I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225429	NM_014586.2(HUNK):c.1783A>G (p.Ser595Gly)	HUNK (S595G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406712	NM_014586.2(HUNK):c.1873G>A (p.Glu625Lys)	HUNK (E625K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285078	NM_014586.2(HUNK):c.1957A>G (p.Ser653Gly)	HUNK (S653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285081	NM_014586.2(HUNK):c.1964A>C (p.Asn655Thr)	HUNK (N655T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494758	NM_014586.2(HUNK):c.1994T>C (p.Met665Thr)	HUNK (M665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107629	NM_014586.2(HUNK):c.2005G>A (p.Gly669Arg)	HUNK (G669R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299604	NM_014586.2(HUNK):c.2093C>G (p.Ala698Gly)	HUNK (A698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410367	NM_014586.2(HUNK):c.2128G>A (p.Val710Ile)	HUNK (V710I)	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 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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