ClinVar for Gene (Select 27085) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296525	NM_022045.5(MTBP):c.1267C>G (p.Gln423Glu)	MTBP (Q423E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296524	NM_022045.5(MTBP):c.2683G>C (p.Asp895His)	MTBP (D895H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296523	NM_022045.5(MTBP):c.852A>G (p.Ile284Met)	MTBP (I284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296522	NM_022045.5(MTBP):c.613G>C (p.Gly205Arg)	MTBP (G205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296521	NM_022045.5(MTBP):c.1442G>A (p.Cys481Tyr)	MTBP (C481Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296520	NM_022045.5(MTBP):c.489A>T (p.Arg163Ser)	MTBP (R163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296519	NM_022045.5(MTBP):c.965T>C (p.Ile322Thr)	MTBP (I322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245402	NC_000008.10:g.(?_118649470)_(122282519_?)del	CCN3, COL14A1 +12 more	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3213562	NM_022045.5(MTBP):c.850A>G (p.Ile284Val)	MTBP (I284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213552	NM_022045.5(MTBP):c.41A>G (p.Lys14Arg)	MTBP (K14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213550	NM_022045.5(MTBP):c.352G>A (p.Glu118Lys)	MTBP (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213546	NM_022045.5(MTBP):c.2648A>G (p.Lys883Arg)	MTBP (K883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213540	NM_022045.5(MTBP):c.2512G>T (p.Val838Phe)	MTBP (V838F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213537	NM_022045.5(MTBP):c.2507A>T (p.Glu836Val)	MTBP (E836V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213522	NM_022045.5(MTBP):c.2348G>T (p.Arg783Leu)	MTBP (R783L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213517	NM_022045.5(MTBP):c.2266T>G (p.Ser756Ala)	MTBP (S756A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213513	NM_022045.5(MTBP):c.2254A>G (p.Lys752Glu)	MTBP (K752E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213508	NM_022045.5(MTBP):c.2207G>A (p.Arg736Gln)	MTBP (R736Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213489	NM_022045.5(MTBP):c.1971T>G (p.His657Gln)	MTBP (H657Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213482	NM_022045.5(MTBP):c.1480G>A (p.Val494Ile)	MTBP (V494I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213478	NM_022045.5(MTBP):c.131C>G (p.Ala44Gly)	MTBP (A44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213475	NM_022045.5(MTBP):c.1223A>G (p.Asn408Ser)	MTBP (N408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213470	NM_022045.5(MTBP):c.120C>A (p.Asp40Glu)	MTBP (D40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213467	NM_022045.5(MTBP):c.1115G>C (p.Ser372Thr)	MTBP (S372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213464	NM_022045.5(MTBP):c.1106A>G (p.Asn369Ser)	MTBP (N369S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213459	NM_022045.5(MTBP):c.1000C>G (p.Gln334Glu)	MTBP (Q334E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2658787	NM_022045.5(MTBP):c.1432T>G (p.Leu478Val)	MTBP (L478V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609933	NM_022045.5(MTBP):c.610G>A (p.Ala204Thr)	MTBP (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608960	NM_022045.5(MTBP):c.239T>C (p.Phe80Ser)	MTBP (F80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604212	NM_022045.5(MTBP):c.2288C>A (p.Thr763Lys)	MTBP (T763K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599179	NM_022045.5(MTBP):c.2087T>G (p.Phe696Cys)	MTBP (F696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2560293	NM_022045.5(MTBP):c.279T>G (p.Cys93Trp)	MTBP (C93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519742	NM_022045.5(MTBP):c.2494C>T (p.Arg832Trp)	MTBP (R832W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517040	NM_022045.5(MTBP):c.2098A>G (p.Thr700Ala)	MTBP (T700A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491217	NM_022045.5(MTBP):c.2180T>C (p.Leu727Pro)	MTBP (L727P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463634	NM_022045.5(MTBP):c.1793T>G (p.Ile598Ser)	MTBP (I598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460309	NM_022045.5(MTBP):c.2578C>T (p.Arg860Cys)	MTBP (R860C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374179	NM_022045.5(MTBP):c.1643T>C (p.Leu548Pro)	MTBP (L548P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351810	NM_022045.5(MTBP):c.736T>C (p.Trp246Arg)	MTBP (W246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347735	NM_022045.5(MTBP):c.2347C>T (p.Arg783Trp)	MTBP (R783W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340227	NM_022045.5(MTBP):c.2383C>T (p.Pro795Ser)	MTBP (P795S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330845	NM_022045.5(MTBP):c.764G>A (p.Ser255Asn)	MTBP (S255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322707	NM_022045.5(MTBP):c.650A>T (p.Glu217Val)	MTBP (E217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322093	NM_022045.5(MTBP):c.2185A>G (p.Thr729Ala)	MTBP (T729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321502	NM_022045.5(MTBP):c.1645A>G (p.Met549Val)	MTBP (M549V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314065	NM_022045.5(MTBP):c.1997G>A (p.Arg666Gln)	MTBP (R666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313809	NM_022045.5(MTBP):c.110A>G (p.Asn37Ser)	MTBP (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312166	NM_022045.5(MTBP):c.1099C>T (p.Pro367Ser)	MTBP (P367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309146	NM_022045.5(MTBP):c.2442T>A (p.His814Gln)	MTBP (H814Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291601	NM_022045.5(MTBP):c.2120C>G (p.Ser707Cys)	MTBP (S707C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241207	NM_022045.5(MTBP):c.2497A>T (p.Ile833Leu)	MTBP (I833L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230475	NM_022045.5(MTBP):c.880A>G (p.Lys294Glu)	MTBP (K294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1807843	GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1	CCN3, COL14A1 +12 more	Copy number loss	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 815154	GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1	AARD, CCN3 +23 more	Copy number loss	not provided	GPathogenic
Select item 784139	NM_022045.5(MTBP):c.1740A>G (p.Leu580=)	MTBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784138	NM_022045.5(MTBP):c.1700C>G (p.Thr567Ser)	MTBP (T567S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784137	NM_022045.5(MTBP):c.548A>G (p.Tyr183Cys)	MTBP (Y183C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774248	NM_022045.5(MTBP):c.431A>G (p.Tyr144Cys)	MTBP (Y144C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768261	NM_022045.5(MTBP):c.1232G>A (p.Arg411Lys)	MTBP (R411K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730406	NM_022045.5(MTBP):c.2158G>A (p.Gly720Arg)	MTBP (G720R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724479	NM_022045.5(MTBP):c.813T>A (p.Thr271=)	MTBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724478	NM_022045.5(MTBP):c.462G>A (p.Leu154=)	MTBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 563549	GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1	AARD, CCN3 +29 more	Copy number loss	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 161754	NM_022045.5(MTBP):c.2380A>G (p.Ile794Val)	MTBP (I794V)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic

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