ClinVar for Gene (Select 10600) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331344	NM_006447.3(USP16):c.49T>G (p.Ser17Ala)	USP16 (S17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331343	NM_006447.3(USP16):c.2411T>A (p.Val804Glu)	USP16 (V804E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331342	NM_006447.3(USP16):c.1011A>T (p.Glu337Asp)	USP16 (E336D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331340	NM_006447.3(USP16):c.1651T>G (p.Ser551Ala)	USP16 (S551A +1 more)	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 3187175	NM_006447.3(USP16):c.890A>G (p.Gln297Arg)	USP16 (Q297R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187174	NM_006447.3(USP16):c.713C>T (p.Pro238Leu)	USP16 (P238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187173	NM_006447.3(USP16):c.659T>C (p.Leu220Pro)	USP16 (L219P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187172	NM_006447.3(USP16):c.442A>C (p.Lys148Gln)	USP16 (K148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187171	NM_006447.3(USP16):c.193A>G (p.Thr65Ala)	USP16 (T65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187169	NM_006447.3(USP16):c.1721A>G (p.Asn574Ser)	USP16 (N574S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187168	NM_006447.3(USP16):c.1195G>T (p.Val399Leu)	USP16 (V399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187167	NM_006447.3(USP16):c.1069C>T (p.Arg357Cys)	USP16 (R357C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	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 2601247	NM_006447.3(USP16):c.796A>T (p.Asn266Tyr)	USP16 (N265Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596820	NM_006447.3(USP16):c.1490A>G (p.His497Arg)	USP16 (H496R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595782	NM_006447.3(USP16):c.1626G>A (p.Met542Ile)	USP16 (M541I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554124	NM_006447.3(USP16):c.1057A>T (p.Ser353Cys)	USP16 (S353C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549137	NM_006447.3(USP16):c.2362G>C (p.Glu788Gln)	USP16 (E787Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543453	NM_006447.3(USP16):c.2014G>A (p.Glu672Lys)	USP16 (E672K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524375	NM_006447.3(USP16):c.70T>A (p.Cys24Ser)	USP16 (C24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484081	NM_006447.3(USP16):c.2216G>C (p.Arg739Thr)	USP16 (R738T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482977	NM_006447.3(USP16):c.1649C>A (p.Thr550Lys)	USP16 (T549K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470698	NM_006447.3(USP16):c.2342T>C (p.Ile781Thr)	USP16 (I781T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462776	NM_006447.3(USP16):c.1924C>T (p.Arg642Cys)	USP16 (R641C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460016	NM_006447.3(USP16):c.719A>T (p.Asp240Val)	USP16 (D239V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458311	NM_006447.3(USP16):c.1552C>A (p.Gln518Lys)	USP16 (Q518K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457672	NM_006447.3(USP16):c.1249G>A (p.Glu417Lys)	USP16 (E416K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393172	NM_006447.3(USP16):c.2267C>T (p.Ser756Leu)	USP16 (S756L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390881	NM_006447.3(USP16):c.1750G>C (p.Ala584Pro)	USP16 (A583P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376602	NM_006447.3(USP16):c.1493T>C (p.Ile498Thr)	USP16 (I497T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370285	NM_006447.3(USP16):c.983G>C (p.Gly328Ala)	USP16 (G327A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346788	NM_006447.3(USP16):c.1700A>G (p.Asn567Ser)	USP16 (N567S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345486	NM_006447.3(USP16):c.914G>A (p.Arg305His)	USP16 (R304H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339453	NM_006447.3(USP16):c.1790A>G (p.Asp597Gly)	USP16 (D596G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332285	NM_006447.3(USP16):c.2047C>A (p.Gln683Lys)	USP16 (Q683K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329179	NM_006447.3(USP16):c.169G>A (p.Val57Met)	USP16 (V57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328279	NM_006447.3(USP16):c.760C>G (p.Pro254Ala)	USP16 (P253A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307039	NM_006447.3(USP16):c.601T>A (p.Leu201Met)	USP16 (L200M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288474	NM_006447.3(USP16):c.1184G>A (p.Gly395Asp)	USP16 (G395D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284902	NM_006447.3(USP16):c.2348A>G (p.Gln783Arg)	USP16 (Q783R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274294	NM_006447.3(USP16):c.1913A>G (p.Tyr638Cys)	USP16 (Y638C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256405	NM_006447.3(USP16):c.1590A>C (p.Lys530Asn)	USP16 (K530N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256234	NM_006447.3(USP16):c.1792A>G (p.Ser598Gly)	USP16 (S598G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253560	NM_006447.3(USP16):c.503G>A (p.Ser168Asn)	USP16 (S168N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248033	NM_006447.3(USP16):c.538A>G (p.Met180Val)	USP16 (M180V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246037	NM_006447.3(USP16):c.2224T>C (p.Tyr742His)	USP16 (Y741H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239149	NM_006447.3(USP16):c.1573G>A (p.Val525Ile)	USP16 (V525I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225493	NM_006447.3(USP16):c.557C>T (p.Pro186Leu)	USP16 (P186L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211338	NM_006447.3(USP16):c.1594A>C (p.Thr532Pro)	USP16 (T532P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	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 1526712	GRCh37/hg19 21q21.3(chr21:30339313-30399972)	LTN1, RWDD2B +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526711	GRCh37/hg19 21q21.3(chr21:30178276-30550204)	CCT8, LTN1 +4 more	Copy number gain	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 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 980229	GRCh37/hg19 21q21.3(chr21:30394538-30471857)x1	USP16, MAP3K7CL +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 769120	NM_006447.3(USP16):c.2011+9A>G	USP16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721047	NM_006447.3(USP16):c.753T>G (p.Leu251=)	USP16	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 686180	GRCh37/hg19 21q21.3(chr21:29859153-30437842)x3	CCT8, LTN1 +3 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 443320	GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1	CCT8, LTN1 +4 more	Copy number loss	See cases	GUncertain significance
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 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
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 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
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 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 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 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic
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

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