26834[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	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 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 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 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 2622015	NM_001080539.2(CCDC150):c.5A>T (p.Asp2Val)	CCDC150 (D2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227411	NM_001080539.2(CCDC150):c.41C>T (p.Pro14Leu)	CCDC150 (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138539	NM_001080539.2(CCDC150):c.43G>A (p.Val15Ile)	CCDC150 (V15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138540	NM_001080539.2(CCDC150):c.44T>C (p.Val15Ala)	CCDC150 (V15A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138528	NM_001080539.2(CCDC150):c.178G>T (p.Gly60Cys)	CCDC150 (G60C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217250	NM_001080539.2(CCDC150):c.235C>T (p.Pro79Ser)	CCDC150 (P79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307099	NM_001080539.2(CCDC150):c.257G>A (p.Cys86Tyr)	CCDC150 (C86Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387737	NM_001080539.2(CCDC150):c.288C>A (p.Asn96Lys)	CCDC150 (N96K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138538	NM_001080539.2(CCDC150):c.370G>A (p.Glu124Lys)	CCDC150 (E124K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342416	NM_001080539.2(CCDC150):c.371A>G (p.Glu124Gly)	CCDC150 (E124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289580	NM_001080539.2(CCDC150):c.515A>G (p.Asp172Gly)	CCDC150 (D172G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481936	NM_001080539.2(CCDC150):c.533T>G (p.Val178Gly)	CCDC150 (V178G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557034	NM_001080539.2(CCDC150):c.547G>T (p.Ala183Ser)	CCDC150 (A183S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291232	NM_001080539.2(CCDC150):c.550A>G (p.Thr184Ala)	CCDC150 (T184A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138541	NM_001080539.2(CCDC150):c.589A>G (p.Ile197Val)	CCDC150 (I197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263950	NM_001080539.2(CCDC150):c.611C>T (p.Thr204Ile)	CCDC150 (T204I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274661	NM_001080539.2(CCDC150):c.611C>G (p.Thr204Ser)	CCDC150 (T204S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333152	NM_001080539.2(CCDC150):c.757A>C (p.Lys253Gln)	CCDC150 (K253Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412409	NM_001080539.2(CCDC150):c.797G>A (p.Arg266His)	CCDC150 (R266H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138542	NM_001080539.2(CCDC150):c.841A>C (p.Lys281Gln)	CCDC150 (K281Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263945	NM_001080539.2(CCDC150):c.847A>G (p.Lys283Glu)	CCDC150 (K283E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138543	NM_001080539.2(CCDC150):c.862A>C (p.Ile288Leu)	CCDC150 (I288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530475	NM_001080539.2(CCDC150):c.881A>C (p.Lys294Thr)	CCDC150 (K294T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138519	NM_001080539.2(CCDC150):c.1021A>G (p.Lys341Glu)	CCDC150 (K9E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220133	NM_001080539.2(CCDC150):c.1072T>G (p.Cys358Gly)	CCDC150 (C26G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138520	NM_001080539.2(CCDC150):c.1075A>G (p.Met359Val)	CCDC150 (M27V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210836	NM_001080539.2(CCDC150):c.1111A>G (p.Ile371Val)	CCDC150 (I371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263948	NM_001080539.2(CCDC150):c.1223A>G (p.Gln408Arg)	CCDC150 (Q408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318725	NM_001080539.2(CCDC150):c.1250T>C (p.Leu417Pro)	CCDC150 (L417P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138522	NM_001080539.2(CCDC150):c.1256C>A (p.Ala419Glu)	CCDC150 (A419E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138523	NM_001080539.2(CCDC150):c.1283A>G (p.His428Arg)	CCDC150 (H428R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475632	NM_001080539.2(CCDC150):c.1327G>A (p.Ala443Thr)	CCDC150 (A443T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138524	NM_001080539.2(CCDC150):c.1360G>C (p.Ala454Pro)	CCDC150 (A122P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138525	NM_001080539.2(CCDC150):c.1445A>C (p.Asn482Thr)	CCDC150 (N150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138526	NM_001080539.2(CCDC150):c.1544C>T (p.Thr515Ile)	CCDC150 (T183I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253336	NM_001080539.2(CCDC150):c.1579A>C (p.Met527Leu)	CCDC150 (M195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485216	NM_001080539.2(CCDC150):c.1591G>C (p.Glu531Gln)	CCDC150 (E199Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597392	NM_001080539.2(CCDC150):c.1676A>G (p.Tyr559Cys)	CCDC150, LOC100130452 (Y521C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138527	NM_001080539.2(CCDC150):c.1720C>A (p.Gln574Lys)	CCDC150, LOC100130452 (Q242K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263946	NM_001080539.2(CCDC150):c.1727A>G (p.Gln576Arg)	CCDC150, LOC100130452 (Q244R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263947	NM_001080539.2(CCDC150):c.1745G>C (p.Ser582Thr)	CCDC150, LOC100130452 (S582T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520215	NM_001080539.2(CCDC150):c.1754A>G (p.Asn585Ser)	CCDC150, LOC100130452 (N547S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341848	NM_001080539.2(CCDC150):c.1765C>T (p.Arg589Cys)	CCDC150, LOC100130452 (R589C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466955	NM_001080539.2(CCDC150):c.1858C>G (p.Leu620Val)	CCDC150, LOC100130452 (L620V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3138529	NM_001080539.2(CCDC150):c.1921C>T (p.Arg641Cys)	CCDC150 (R288C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386680	NM_001080539.2(CCDC150):c.2106G>C (p.Glu702Asp)	CCDC150 (E349D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355733	NM_001080539.2(CCDC150):c.2129G>A (p.Arg710Gln)	CCDC150 (R118Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303555	NM_001080539.2(CCDC150):c.2357A>G (p.Gln786Arg)	CCDC150 (Q273R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138531	NM_001080539.2(CCDC150):c.2369A>T (p.Asp790Val)	CCDC150 (D731V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403530	NM_001080539.2(CCDC150):c.2542C>T (p.Arg848Trp)	CCDC150 (R335W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233406	NM_001080539.2(CCDC150):c.2543G>A (p.Arg848Gln)	CCDC150 (R256Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263942	NM_001080539.2(CCDC150):c.2563A>G (p.Lys855Glu)	CCDC150 (K796E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263951	NM_001080539.2(CCDC150):c.2572G>A (p.Asp858Asn)	CCDC150 (D505N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289440	NM_001080539.2(CCDC150):c.2586C>A (p.Phe862Leu)	CCDC150 (F509L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464474	NM_001080539.2(CCDC150):c.2605C>T (p.Arg869Trp)	CCDC150 (R810W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227559	NM_001080539.2(CCDC150):c.2636C>T (p.Ala879Val)	CCDC150 (A820V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138532	NM_001080539.2(CCDC150):c.2773C>A (p.Gln925Lys)	CCDC150 (Q866K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489861	NM_001080539.2(CCDC150):c.2804A>G (p.Lys935Arg)	CCDC150 (K357R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474703	NM_001080539.2(CCDC150):c.2812T>C (p.Tyr938His)	CCDC150 (Y360H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651793	NM_001080539.2(CCDC150):c.2844G>A (p.Val948=)	CCDC150	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263949	NM_001080539.2(CCDC150):c.2857A>C (p.Asn953His)	CCDC150 (N600H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526114	NM_001080539.2(CCDC150):c.2912G>T (p.Arg971Leu)	CCDC150 (R912L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364395	NM_001080539.2(CCDC150):c.2912G>A (p.Arg971Gln)	CCDC150 (R971Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138533	NM_001080539.2(CCDC150):c.2915A>G (p.Asn972Ser)	CCDC150 (N972S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138534	NM_001080539.2(CCDC150):c.2947C>T (p.Arg983Trp)	CCDC150 (R405W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138535	NM_001080539.2(CCDC150):c.2974C>T (p.Arg992Trp)	CCDC150 (R414W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474073	NM_001080539.2(CCDC150):c.3017G>A (p.Cys1006Tyr)	CCDC150 (C428Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209383	NM_001080539.2(CCDC150):c.3215T>C (p.Met1072Thr)	CCDC150 (M1072T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138536	NM_001080539.2(CCDC150):c.3224A>G (p.Gln1075Arg)	CCDC150 (Q1075R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138537	NM_001080539.2(CCDC150):c.3257A>G (p.Asn1086Ser)	CCDC150 (N1027S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362284	NM_001080539.2(CCDC150):c.3271C>A (p.Pro1091Thr)	CCDC150 (P1032T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2685871	GRCh37/hg19 2q32.3-33.1(chr2:197241559-198122706)x3	ANKRD44, C2orf66 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
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 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 685714	GRCh37/hg19 2q32.3-33.1(chr2:197361533-197541555)x3	CCDC150, HECW2	Copy number gain	not provided	GUncertain significance
Select item 685159	GRCh37/hg19 2q32.3-33.1(chr2:197302419-197521988)x3	CCDC150, HECW2	Copy number gain	not provided	GUncertain significance

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