ClinVar for Gene (Select 401036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317457	NM_212556.4(ASB18):c.638G>A (p.Arg213His)	ASB18 (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317446	NM_212556.4(ASB18):c.398C>A (p.Thr133Asn)	ASB18 (T133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317436	NM_212556.4(ASB18):c.931C>T (p.Leu311Phe)	ASB18 (L311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	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 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3130157	NM_212556.4(ASB18):c.949G>A (p.Ala317Thr)	ASB18 (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130156	NM_212556.4(ASB18):c.859G>A (p.Asp287Asn)	ASB18 (D287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130155	NM_212556.4(ASB18):c.722G>A (p.Arg241His)	ASB18 (R241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
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 2623577	NM_212556.4(ASB18):c.1173G>C (p.Leu391Phe)	ASB18, GBX2-AS1 (L391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623140	NM_212556.4(ASB18):c.928C>T (p.Arg310Cys)	ASB18 (R310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621451	NM_212556.4(ASB18):c.1100A>G (p.Lys367Arg)	ASB18 (K367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614662	NM_212556.4(ASB18):c.885C>A (p.Ser295Arg)	ASB18 (S295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569319	NM_212556.4(ASB18):c.646G>A (p.Gly216Ser)	ASB18 (G216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556846	NM_212556.4(ASB18):c.761C>T (p.Thr254Met)	ASB18 (T254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552508	NM_212556.4(ASB18):c.338C>A (p.Thr113Asn)	ASB18 (T113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545701	NM_212556.4(ASB18):c.976G>T (p.Gly326Trp)	ASB18 (G326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545700	NM_212556.4(ASB18):c.968A>C (p.Asp323Ala)	ASB18 (D323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535189	NM_212556.4(ASB18):c.599G>A (p.Cys200Tyr)	ASB18 (C200Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528617	NM_212556.4(ASB18):c.520C>T (p.His174Tyr)	ASB18 (H174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511861	NM_212556.4(ASB18):c.617A>C (p.Glu206Ala)	ASB18 (E206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489488	NM_212556.4(ASB18):c.485G>A (p.Gly162Glu)	ASB18 (G162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486674	NM_212556.4(ASB18):c.214G>A (p.Asp72Asn)	ASB18 (D72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462296	NM_212556.4(ASB18):c.622G>T (p.Gly208Trp)	ASB18 (G208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455966	NM_212556.4(ASB18):c.1297C>T (p.Arg433Cys)	ASB18, GBX2-AS1 (R433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2398494	NM_212556.4(ASB18):c.467T>C (p.Leu156Pro)	ASB18 (L156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370793	NM_212556.4(ASB18):c.1195A>G (p.Ile399Val)	ASB18, GBX2-AS1 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343721	NM_212556.4(ASB18):c.1300A>G (p.Arg434Gly)	ASB18, GBX2-AS1 (R434G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322265	NM_212556.4(ASB18):c.871G>C (p.Glu291Gln)	ASB18 (E291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296831	NM_212556.4(ASB18):c.1385A>G (p.Gln462Arg)	ASB18, GBX2-AS1 (Q462R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294238	NM_212556.4(ASB18):c.1238C>T (p.Ser413Phe)	ASB18, GBX2-AS1 (S413F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291653	NM_212556.4(ASB18):c.193G>A (p.Gly65Ser)	ASB18 (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287153	NM_212556.4(ASB18):c.353G>T (p.Arg118Leu)	ASB18 (R118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274088	NM_212556.4(ASB18):c.105A>C (p.Leu35Phe)	ASB18 (L35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252725	NM_212556.4(ASB18):c.938T>G (p.Leu313Arg)	ASB18 (L313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247892	NM_212556.4(ASB18):c.445A>C (p.Ser149Arg)	ASB18 (S149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234574	NM_212556.4(ASB18):c.586G>A (p.Ala196Thr)	ASB18 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204604	NM_212556.4(ASB18):c.577C>G (p.Arg193Gly)	ASB18 (R193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808816	GRCh37/hg19 2q37.2-37.3(chr2:236876804-237470963)x3	AGAP1, ASB18 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
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 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1205901	NM_212556.4(ASB18):c.847G>A (p.Gly283Arg)	ASB18 (G283R)	Single nucleotide variant (missense variant)	not provided	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	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980014	GRCh37/hg19 2q37.2(chr2:236912262-237180519)x3	ASB18, AGAP1 +1 more	Copy number gain	not provided	GLikely benign
Select item 816590	GRCh37/hg19 2q37.2-37.3(chr2:237109613-237962213)x3	ASB18, ACKR3 +1 more	Copy number gain	not provided	GLikely benign
Select item 816588	GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1	ACKR3, AGAP1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	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 689087	GRCh37/hg19 2q37.2-37.3(chr2:237147543-237400898)x3	ASB18, IQCA1	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	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 562671	GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1	AQP12B, ASB1 +59 more	Copy number loss	not provided	GPathogenic
Select item 443896	GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	See cases	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 442941	GRCh37/hg19 2q37.2-37.3(chr2:235791354-237594511)x1	ACKR3, AGAP1 +4 more	Copy number loss	See cases	GUncertain significance
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 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 373441	NM_212556.4(ASB18):c.1286G>A (p.Arg429His)	ASB18, GBX2-AS1 (R429H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 373440	NM_212556.4(ASB18):c.694G>C (p.Asp232His)	ASB18 (D232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 155528	GRCh38/hg38 2q37.2-37.3(chr2:235927742-236472322)x3	AGAP1, ASB18 +11 more	Copy number gain	See cases	GUncertain significance
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 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 146848	GRCh38/hg38 2q37.2-37.3(chr2:236224888-236827745)x3	ACKR3, ASB18 +14 more	Copy number gain	See cases	GLikely benign
Select item 146836	GRCh38/hg38 2q37.2-37.3(chr2:236180530-237034528)x3	ACKR3, ASB18 +18 more	Copy number gain	See cases	GLikely benign
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 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 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
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic

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