ClinVar for Gene (Select 79441) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283529	NM_001303143.2(HAUS3):c.509C>G (p.Thr170Ser)	HAUS3, POLN (T170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283528	NM_001303143.2(HAUS3):c.1319C>A (p.Thr440Asn)	HAUS3, POLN (T440N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283526	NM_001303143.2(HAUS3):c.441G>T (p.Lys147Asn)	HAUS3, POLN (K147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283525	NM_001303143.2(HAUS3):c.36A>T (p.Lys12Asn)	HAUS3, POLN (K12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283524	NM_001303143.2(HAUS3):c.1275G>A (p.Met425Ile)	HAUS3, POLN (M425I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3283523	NM_001303143.2(HAUS3):c.544C>G (p.His182Asp)	HAUS3, POLN (H182D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283522	NM_001303143.2(HAUS3):c.343C>G (p.Leu115Val)	HAUS3, POLN (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283521	NM_001303143.2(HAUS3):c.491A>G (p.Asn164Ser)	HAUS3, POLN (N164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283520	NM_001303143.2(HAUS3):c.14A>T (p.Asn5Ile)	HAUS3, POLN (N5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3104327	NM_001303143.2(HAUS3):c.944C>G (p.Ser315Cys)	HAUS3, POLN (S315C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104326	NM_001303143.2(HAUS3):c.797A>G (p.Gln266Arg)	HAUS3, POLN (Q266R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104325	NM_001303143.2(HAUS3):c.776G>A (p.Arg259Gln)	HAUS3, POLN (R259Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104323	NM_001303143.2(HAUS3):c.1678T>G (p.Leu560Val)	HAUS3, POLN (L560V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104322	NM_001303143.2(HAUS3):c.1494C>A (p.Phe498Leu)	HAUS3, POLN (F498L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104321	NM_001303143.2(HAUS3):c.1303A>G (p.Ile435Val)	HAUS3, POLN (I435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MAEA, MAN2B2 +117 more	Copy number loss	not provided	GPathogenic
Select item 2689195	NM_001303143.2(HAUS3):c.1679T>C (p.Leu560Ser)	HAUS3, POLN (L560S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2619104	NM_181808.4(POLN):c.128C>T (p.Thr43Ile)	HAUS3, POLN (T43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616924	NM_001303143.2(HAUS3):c.215T>C (p.Leu72Pro)	HAUS3, POLN (L72P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ADRA2C, AFAP1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2567747	NM_001303143.2(HAUS3):c.140T>C (p.Val47Ala)	HAUS3, POLN (V47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558009	NM_001303143.2(HAUS3):c.635C>T (p.Ala212Val)	HAUS3, POLN (A212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553752	NM_001303143.2(HAUS3):c.1513A>G (p.Lys505Glu)	HAUS3, POLN (K505E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545458	NM_001303143.2(HAUS3):c.1208G>T (p.Arg403Leu)	HAUS3, POLN (R403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520799	NM_001303143.2(HAUS3):c.660A>T (p.Lys220Asn)	HAUS3, POLN (K220N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520633	NM_001303143.2(HAUS3):c.808A>G (p.Ile270Val)	HAUS3, POLN (I270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516081	NM_001303143.2(HAUS3):c.704A>G (p.Glu235Gly)	HAUS3, POLN (E235G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489982	NM_001303143.2(HAUS3):c.1760T>C (p.Val587Ala)	HAUS3, POLN (V587A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484777	NM_181808.4(POLN):c.115T>C (p.Trp39Arg)	HAUS3, POLN (W39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2410016	NM_001303143.2(HAUS3):c.359G>T (p.Arg120Leu)	HAUS3, POLN (R120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393887	NM_001303143.2(HAUS3):c.946A>G (p.Ser316Gly)	HAUS3, POLN (S316G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386799	NM_001303143.2(HAUS3):c.428A>C (p.Glu143Ala)	HAUS3, POLN (E143A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374831	NM_001303143.2(HAUS3):c.1229A>G (p.Gln410Arg)	HAUS3, POLN (Q410R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364784	NM_001303143.2(HAUS3):c.779T>C (p.Leu260Pro)	HAUS3, POLN (L260P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363750	NM_001303143.2(HAUS3):c.1333G>A (p.Asp445Asn)	HAUS3, POLN (D445N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354642	NM_001303143.2(HAUS3):c.1003A>G (p.Ser335Gly)	HAUS3, POLN (S335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316190	NM_001303143.2(HAUS3):c.940A>T (p.Ile314Phe)	HAUS3, POLN (I314F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300811	NM_001303143.2(HAUS3):c.1759G>A (p.Val587Met)	HAUS3, POLN (V587M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296432	NM_181808.4(POLN):c.95A>T (p.Asp32Val)	HAUS3, POLN (D32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279553	NM_001303143.2(HAUS3):c.1369G>A (p.Gly457Arg)	HAUS3, POLN (G457R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266682	NM_001303143.2(HAUS3):c.1250T>G (p.Met417Arg)	HAUS3, POLN (M417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254973	NM_001303143.2(HAUS3):c.298G>A (p.Glu100Lys)	HAUS3, POLN (E100K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246753	NM_001303143.2(HAUS3):c.274C>G (p.Pro92Ala)	HAUS3, POLN (P92A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234481	NM_181808.4(POLN):c.92G>A (p.Gly31Asp)	HAUS3, POLN (G31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219950	NM_001303143.2(HAUS3):c.434C>T (p.Thr145Ile)	HAUS3, POLN (T145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213282	NM_001303143.2(HAUS3):c.351T>G (p.Ile117Met)	HAUS3, POLN (I117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204042	NM_001303143.2(HAUS3):c.1553G>A (p.Gly518Glu)	HAUS3, POLN (G518E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808865	GRCh37/hg19 4p16.3(chr4:2195665-2503033)x3	HAUS3, MXD4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808341	GRCh37/hg19 4p16.3(chr4:1892740-2503033)x3	C4orf48, HAUS3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	TNIP2, ZNF721 +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	TMEM128, TNIP2 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979459	GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	HAUS3, GAK +38 more	Copy number gain	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 832912	NC_000004.12:g.(?_2059492)_(2833854_?)del	TNIP2, ZFYVE28 +7 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 684891	GRCh37/hg19 4p16.3(chr4:2238817-2276067)x1	HAUS3, MXD4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625700	GRCh37/hg19 4p16.3(chr4:1305802-2460571)	HAUS3, FAM53A +16 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562880	GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3	NAT8L, GRK4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562877	GRCh37/hg19 4p16.3(chr4:1770486-2303110)x3	C4orf48, NSD2 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic

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