ClinVar for Gene (Select 55355) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284388	NM_018410.5(HJURP):c.256C>G (p.Pro86Ala)	HJURP (P86A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284387	NM_018410.5(HJURP):c.892A>G (p.Arg298Gly)	HJURP (R213G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284386	NM_018410.5(HJURP):c.1837A>G (p.Ser613Gly)	HJURP (S613G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284385	NM_018410.5(HJURP):c.1435G>A (p.Gly479Ser)	HJURP (G425S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284384	NM_018410.5(HJURP):c.1717G>A (p.Gly573Arg)	HJURP (G519R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284383	NM_018410.5(HJURP):c.793G>A (p.Ala265Thr)	HJURP (A265T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247462	NC_000002.11:g.(?_234665659)_(234978657_?)del	HJURP, MROH2A +11 more	Deletion	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3106081	NM_018410.5(HJURP):c.943C>G (p.Arg315Gly)	HJURP (R261G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106080	NM_018410.5(HJURP):c.527G>A (p.Arg176His)	HJURP (R91H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106079	NM_018410.5(HJURP):c.502G>A (p.Gly168Ser)	HJURP (G83S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106078	NM_018410.5(HJURP):c.35A>T (p.Asp12Val)	HJURP (D12V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106077	NM_018410.5(HJURP):c.34G>T (p.Asp12Tyr)	HJURP (D12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106076	NM_018410.5(HJURP):c.347G>C (p.Ser116Thr)	HJURP (S116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106075	NM_018410.5(HJURP):c.1775G>A (p.Cys592Tyr)	HJURP (C538Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106074	NM_018410.5(HJURP):c.1666G>A (p.Val556Met)	HJURP (V556M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106073	NM_018410.5(HJURP):c.1603C>T (p.Arg535Cys)	HJURP (R535C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106072	NM_018410.5(HJURP):c.1535G>T (p.Gly512Val)	HJURP (G427V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106071	NM_018410.5(HJURP):c.1529A>G (p.Glu510Gly)	HJURP (E425G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106070	NM_018410.5(HJURP):c.1277A>G (p.His426Arg)	HJURP (H341R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106069	NM_018410.5(HJURP):c.1122G>T (p.Trp374Cys)	HJURP (W289C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106068	NM_018410.5(HJURP):c.104G>A (p.Arg35Gln)	HJURP (R35Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652028	NM_018410.5(HJURP):c.537G>A (p.Pro179=)	HJURP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624272	NM_018410.5(HJURP):c.811A>G (p.Met271Val)	HJURP (M186V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621363	NM_018410.5(HJURP):c.1102C>G (p.His368Asp)	HJURP (H314D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613303	NM_018410.5(HJURP):c.2199A>C (p.Glu733Asp)	HJURP (E733D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610196	NM_018410.5(HJURP):c.1252T>G (p.Ser418Ala)	HJURP (S333A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608488	NM_018410.5(HJURP):c.280G>A (p.Val94Met)	HJURP (V94M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560448	NM_018410.5(HJURP):c.1268G>A (p.Arg423Gln)	HJURP (R338Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560389	NM_018410.5(HJURP):c.2183C>T (p.Thr728Met)	HJURP (T674M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559786	NM_018410.5(HJURP):c.1793A>C (p.Gln598Pro)	HJURP (Q513P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547549	NM_018410.5(HJURP):c.1399T>C (p.Tyr467His)	HJURP (Y382H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541625	NM_018410.5(HJURP):c.1024A>C (p.Asn342His)	HJURP (N288H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531719	NM_018410.5(HJURP):c.93G>T (p.Arg31Ser)	HJURP (R31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523600	NM_018410.5(HJURP):c.818G>A (p.Arg273Gln)	HJURP (R273Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521219	NM_018410.5(HJURP):c.587G>A (p.Arg196His)	HJURP (R111H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518133	NM_018410.5(HJURP):c.988C>T (p.Pro330Ser)	HJURP (P330S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515053	NM_018410.5(HJURP):c.1103A>G (p.His368Arg)	HJURP (H283R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511240	NM_018410.5(HJURP):c.860C>T (p.Thr287Met)	HJURP (T202M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2478640	NM_018410.5(HJURP):c.1023G>T (p.Lys341Asn)	HJURP (K256N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478165	NM_018410.5(HJURP):c.306G>C (p.Glu102Asp)	HJURP (E102D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474800	NM_018410.5(HJURP):c.2181C>G (p.Asn727Lys)	HJURP (N673K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474507	NM_018410.5(HJURP):c.1678A>G (p.Lys560Glu)	HJURP (K560E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473317	NM_018410.5(HJURP):c.1390A>G (p.Met464Val)	HJURP (M379V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466593	NM_018410.5(HJURP):c.526C>T (p.Arg176Cys)	HJURP (R122C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409216	NM_018410.5(HJURP):c.1406G>C (p.Gly469Ala)	HJURP (G415A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408676	NM_018410.5(HJURP):c.1810T>G (p.Cys604Gly)	HJURP (C604G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395218	NM_018410.5(HJURP):c.772G>A (p.Val258Met)	HJURP (V173M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392466	NM_018410.5(HJURP):c.11C>T (p.Thr4Met)	HJURP (T4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386033	NM_018410.5(HJURP):c.2014G>A (p.Gly672Ser)	HJURP (G618S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384633	NM_018410.5(HJURP):c.1607C>T (p.Pro536Leu)	HJURP (P451L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382658	NM_018410.5(HJURP):c.1630G>A (p.Val544Ile)	HJURP (V490I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365874	NM_018410.5(HJURP):c.36C>A (p.Asp12Glu)	HJURP (D12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365346	NM_018410.5(HJURP):c.1604G>A (p.Arg535His)	HJURP (R481H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351161	NM_018410.5(HJURP):c.944G>A (p.Arg315His)	HJURP (R261H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343592	NM_018410.5(HJURP):c.1810T>C (p.Cys604Arg)	HJURP (C519R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335114	NM_018410.5(HJURP):c.1597G>A (p.Ala533Thr)	HJURP (A448T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333480	NM_018410.5(HJURP):c.1397T>C (p.Met466Thr)	HJURP (M466T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314966	NM_018410.5(HJURP):c.1019G>C (p.Cys340Ser)	HJURP (C286S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306418	NM_018410.5(HJURP):c.1054G>C (p.Gly352Arg)	HJURP (G298R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280304	NM_018410.5(HJURP):c.243C>A (p.Asp81Glu)	HJURP (D81E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256873	NM_018410.5(HJURP):c.2098G>A (p.Ala700Thr)	HJURP (A615T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244018	NM_018410.5(HJURP):c.1045C>T (p.Arg349Cys)	HJURP (R295C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241487	NM_018410.5(HJURP):c.659C>T (p.Pro220Leu)	HJURP (P166L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221080	NM_018410.5(HJURP):c.121A>G (p.Asn41Asp)	HJURP (N41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208832	NM_018410.5(HJURP):c.1732G>A (p.Asp578Asn)	HJURP (D493N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526964	GRCh37/hg19 2q37.1-37.2(chr2:234613080-236824976)	AGAP1, ARL4C +15 more	Copy number loss	not specified	GUncertain significance
Select item 1526963	GRCh37/hg19 2q37.1-37.2(chr2:234390282-236327203)	ARL4C, DNAJB3 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SP140L, SPATA3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562672	GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3	ACKR3, AGAP1 +65 more	Copy number gain	not provided	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +74 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441700	GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1	DNAJB3, HJURP +13 more	Copy number loss	See cases	GUncertain significance
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic

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