HAUS6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC124210616, LOC124225047 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 3104361	NM_017645.5(HAUS6):c.2811A>C (p.Glu937Asp)	HAUS6 (E937D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550108	NM_017645.5(HAUS6):c.2774C>T (p.Ala925Val)	HAUS6 (A925V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288570	NM_017645.5(HAUS6):c.2716T>C (p.Ser906Pro)	HAUS6 (S871P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488734	NM_017645.5(HAUS6):c.2693C>T (p.Thr898Met)	HAUS6 (T863M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513948	NM_017645.5(HAUS6):c.2690G>A (p.Arg897His)	HAUS6 (R897H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545258	NM_017645.5(HAUS6):c.2689C>T (p.Arg897Cys)	HAUS6 (R897C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382818	NM_017645.5(HAUS6):c.2611C>G (p.Gln871Glu)	HAUS6 (Q836E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104359	NM_017645.5(HAUS6):c.2561C>T (p.Ser854Leu)	HAUS6 (S854L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104358	NM_017645.5(HAUS6):c.2515G>T (p.Ala839Ser)	HAUS6 (A804S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354990	NM_017645.5(HAUS6):c.2501G>A (p.Arg834His)	HAUS6 (R834H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211449	NM_017645.5(HAUS6):c.2470C>G (p.Pro824Ala)	HAUS6 (P824A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104357	NM_017645.5(HAUS6):c.2468C>T (p.Thr823Ile)	HAUS6 (T823I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353446	NM_017645.5(HAUS6):c.2438T>C (p.Leu813Pro)	HAUS6 (L778P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242145	NM_017645.5(HAUS6):c.2419A>C (p.Met807Leu)	HAUS6 (M772L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266380	NM_017645.5(HAUS6):c.2345A>G (p.Glu782Gly)	HAUS6 (E747G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104356	NM_017645.5(HAUS6):c.2342C>T (p.Pro781Leu)	HAUS6 (P781L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325641	NM_017645.5(HAUS6):c.2294C>G (p.Ser765Cys)	HAUS6 (S765C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558260	NM_017645.5(HAUS6):c.2291G>A (p.Ser764Asn)	HAUS6 (S729N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540965	NM_017645.5(HAUS6):c.2164A>G (p.Ile722Val)	HAUS6 (I722V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104355	NM_017645.5(HAUS6):c.2066A>C (p.Lys689Thr)	HAUS6 (K689T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518945	NM_017645.5(HAUS6):c.2057T>C (p.Leu686Ser)	HAUS6 (L651S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357538	NM_017645.5(HAUS6):c.2042A>G (p.Gln681Arg)	HAUS6 (Q646R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543887	NM_017645.5(HAUS6):c.2026G>C (p.Asp676His)	HAUS6 (D641H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104354	NM_017645.5(HAUS6):c.1999C>G (p.Gln667Glu)	HAUS6 (Q632E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104352	NM_017645.5(HAUS6):c.1834C>G (p.Gln612Glu)	HAUS6 (Q577E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104351	NM_017645.5(HAUS6):c.1554T>A (p.Ser518Arg)	HAUS6 (S483R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531026	NM_017645.5(HAUS6):c.1547C>G (p.Thr516Arg)	HAUS6 (T516R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361517	NM_017645.5(HAUS6):c.1537G>A (p.Ala513Thr)	HAUS6 (A513T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535336	NM_017645.5(HAUS6):c.1534G>A (p.Val512Ile)	HAUS6 (V477I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620586	NM_017645.5(HAUS6):c.1387T>C (p.Phe463Leu)	HAUS6 (F463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398843	NM_017645.5(HAUS6):c.1355C>T (p.Ala452Val)	HAUS6 (A452V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325638	NM_017645.5(HAUS6):c.1325G>C (p.Gly442Ala)	HAUS6 (G407A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374815	NM_017645.5(HAUS6):c.1315C>G (p.Gln439Glu)	HAUS6 (Q439E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301847	NM_017645.5(HAUS6):c.1220C>T (p.Pro407Leu)	HAUS6 (P372L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104350	NM_017645.5(HAUS6):c.1207C>T (p.Pro403Ser)	HAUS6 (P368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104349	NM_017645.5(HAUS6):c.1190C>T (p.Pro397Leu)	HAUS6 (P362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104348	NM_017645.5(HAUS6):c.1132A>G (p.Lys378Glu)	HAUS6 (K378E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353268	NM_017645.5(HAUS6):c.1091C>G (p.Thr364Ser)	HAUS6 (T364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104347	NM_017645.5(HAUS6):c.1081G>A (p.Asp361Asn)	HAUS6 (D361N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521873	NM_017645.5(HAUS6):c.1059T>G (p.His353Gln)	HAUS6 (H353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370687	NM_017645.5(HAUS6):c.1051C>A (p.Leu351Met)	HAUS6 (L351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335496	NM_017645.5(HAUS6):c.1018G>C (p.Glu340Gln)	HAUS6 (E340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544291	NM_017645.5(HAUS6):c.982G>A (p.Ala328Thr)	HAUS6 (A328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609082	NM_017645.5(HAUS6):c.878T>C (p.Ile293Thr)	HAUS6 (I293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211787	NM_017645.5(HAUS6):c.857A>C (p.Lys286Thr)	HAUS6 (K286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454833	NM_017645.5(HAUS6):c.851T>C (p.Ile284Thr)	HAUS6 (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589599	NM_017645.5(HAUS6):c.829C>T (p.Pro277Ser)	HAUS6 (P277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529906	NM_017645.5(HAUS6):c.811A>C (p.Asn271His)	HAUS6 (N271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523423	NM_017645.5(HAUS6):c.796G>T (p.Ala266Ser)	HAUS6 (A266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104363	NM_017645.5(HAUS6):c.753G>T (p.Glu251Asp)	HAUS6 (E251D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300900	NM_017645.5(HAUS6):c.736A>G (p.Met246Val)	HAUS6 (M246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349302	NM_017645.5(HAUS6):c.688A>C (p.Lys230Gln)	HAUS6 (K230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398220	NM_017645.5(HAUS6):c.564A>C (p.Gln188His)	HAUS6 (Q188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484480	NM_017645.5(HAUS6):c.540G>T (p.Leu180Phe)	HAUS6 (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104362	NM_017645.5(HAUS6):c.449A>G (p.His150Arg)	HAUS6 (H150R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290895	NM_017645.5(HAUS6):c.449A>T (p.His150Leu)	HAUS6 (H150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559490	NM_017645.5(HAUS6):c.443C>T (p.Ser148Phe)	HAUS6 (S148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288400	NM_017645.5(HAUS6):c.414A>C (p.Lys138Asn)	HAUS6 (K138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621808	NM_017645.5(HAUS6):c.389A>G (p.His130Arg)	HAUS6 (H130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403787	NM_017645.5(HAUS6):c.386A>G (p.Tyr129Cys)	HAUS6 (Y129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278418	NM_017645.5(HAUS6):c.376C>T (p.His126Tyr)	HAUS6 (H126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395732	NM_017645.5(HAUS6):c.314G>A (p.Gly105Glu)	HAUS6 (G105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516572	NM_017645.5(HAUS6):c.310T>A (p.Cys104Ser)	HAUS6 (C104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239838	NM_017645.5(HAUS6):c.284A>G (p.Glu95Gly)	HAUS6 (E95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104360	NM_017645.5(HAUS6):c.274C>T (p.His92Tyr)	HAUS6 (H92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560164	NM_017645.5(HAUS6):c.259A>T (p.Thr87Ser)	HAUS6 (T87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146588	GRCh38/hg38 9p22.1(chr9:19096650-19096709)x3	HAUS6	Copy number gain	See cases	GBenign

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