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 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 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	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001820, LOC130001821 +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001624, LOC130001625 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 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)	SLC24A2, SLC25A51 +691 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 3283548	NM_017645.5(HAUS6):c.2651C>T (p.Thr884Ile)	HAUS6 (T849I +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 3283547	NM_017645.5(HAUS6):c.2419A>G (p.Met807Val)	HAUS6 (M772V +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 3283542	NM_017645.5(HAUS6):c.2023A>C (p.Ile675Leu)	HAUS6 (I640L +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 3283540	NM_017645.5(HAUS6):c.1013A>G (p.Glu338Gly)	HAUS6 (E338G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283546	NM_017645.5(HAUS6):c.987A>T (p.Arg329Ser)	HAUS6 (R329S)	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 3283539	NM_017645.5(HAUS6):c.860A>C (p.Gln287Pro)	HAUS6 (Q287P)	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 3283551	NM_017645.5(HAUS6):c.622T>G (p.Cys208Gly)	HAUS6 (C208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283543	NM_017645.5(HAUS6):c.609C>G (p.Asn203Lys)	HAUS6 (N203K)	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 3283544	NM_017645.5(HAUS6):c.487C>A (p.His163Asn)	HAUS6 (H163N)	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

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