13815[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 221757	GRCh38/hg38 16q23.2(chr16:81216324-81270286)x1	BCO1, PKD1L2	Copy number loss	Premature ovarian failure	GBenign
Select item 2467354	NM_017429.3(BCO1):c.27G>C (p.Arg9Ser)	BCO1 (R9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267670	NM_017429.3(BCO1):c.64+51T>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289541	NM_017429.3(BCO1):c.64+206G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048547	NM_017429.3(BCO1):c.75A>T (p.Pro25=)	BCO1	Single nucleotide variant (synonymous variant)	BCO1-related disorder	GLikely benign
Select item 1250161	NM_017429.3(BCO1):c.105T>C (p.Asn35=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3133523	NM_017429.3(BCO1):c.106G>A (p.Gly36Arg)	BCO1 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260712	NM_017429.3(BCO1):c.149G>T (p.Trp50Leu)	BCO1 (W50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057991	NM_017429.3(BCO1):c.156C>T (p.Asp52=)	BCO1	Single nucleotide variant (synonymous variant)	BCO1-related disorder	GLikely benign
Select item 1275712	NM_017429.3(BCO1):c.193+170C>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248615	NM_017429.3(BCO1):c.193+226A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223010	NM_017429.3(BCO1):c.193+272dup	BCO1	Duplication (intron variant)	not provided	GBenign
Select item 1246078	NM_017429.3(BCO1):c.193+267_193+272del	BCO1	Deletion (intron variant)	not provided	GBenign
Select item 1222394	NM_017429.3(BCO1):c.193+265_193+272del	BCO1	Deletion (intron variant)	not provided	GBenign
Select item 1257454	NM_017429.3(BCO1):c.193+274T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231797	NM_017429.3(BCO1):c.194-238G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230206	NM_017429.3(BCO1):c.194-219A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287583	NM_017429.3(BCO1):c.194-74A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3260713	NM_017429.3(BCO1):c.212G>A (p.Ser71Asn)	BCO1 (S71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299007	NM_017429.3(BCO1):c.258C>G (p.Asn86Lys)	BCO1 (N86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546112	NM_017429.3(BCO1):c.296C>A (p.Pro99Gln)	BCO1 (P99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244506	NM_017429.3(BCO1):c.323+259G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2254733	NM_017429.3(BCO1):c.326C>G (p.Ala109Gly)	BCO1 (A109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230730	NM_017429.3(BCO1):c.363C>A (p.Thr121=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3260710	NM_017429.3(BCO1):c.412A>G (p.Thr138Ala)	BCO1 (T138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064733	NM_017429.3(BCO1):c.425A>G (p.Asn142Ser)	BCO1 (N142S)	Single nucleotide variant (missense variant)	Hereditary hypercarotenemia and vitamin A deficiency	GUncertain significance
Select item 2485644	NM_017429.3(BCO1):c.450G>C (p.Gln150His)	BCO1 (Q150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265199	NM_017429.3(BCO1):c.471+14T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272760	NM_017429.3(BCO1):c.472-212A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034681	NM_017429.3(BCO1):c.481C>T (p.Arg161Cys)	BCO1 (R161C)	Single nucleotide variant (missense variant)	BCO1-related disorder	GLikely benign
Select item 2324115	NM_017429.3(BCO1):c.482G>A (p.Arg161His)	BCO1 (R161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030112	NM_017429.3(BCO1):c.495G>A (p.Ala165=)	BCO1	Single nucleotide variant (synonymous variant)	BCO1-related disorder	GLikely benign
Select item 2534495	NM_017429.3(BCO1):c.496G>A (p.Val166Ile)	BCO1 (V166I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 4772	NM_017429.3(BCO1):c.509C>T (p.Thr170Met)	BCO1 (T170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771763	NM_017429.3(BCO1):c.510G>A (p.Thr170=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262429	NM_017429.3(BCO1):c.521A>G (p.His174Arg)	BCO1 (H174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411322	NM_017429.3(BCO1):c.533C>T (p.Ala178Val)	BCO1 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362307	NM_017429.3(BCO1):c.568G>A (p.Glu190Lys)	BCO1 (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353900	NM_017429.3(BCO1):c.598A>G (p.Lys200Glu)	BCO1 (K200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237097	NM_017429.3(BCO1):c.619+145C>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225223	NM_017429.3(BCO1):c.620-53G>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232968	NM_017429.3(BCO1):c.678A>G (p.Pro226=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753108	NM_017429.3(BCO1):c.678A>T (p.Pro226=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133528	NM_017429.3(BCO1):c.713G>C (p.Ser238Thr)	BCO1 (S238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342196	NM_017429.3(BCO1):c.796C>T (p.Arg266Trp)	BCO1 (R266W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260709	NM_017429.3(BCO1):c.797G>A (p.Arg266Gln)	BCO1 (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465413	NM_017429.3(BCO1):c.800G>A (p.Arg267Lys)	BCO1 (R267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1293223	NM_017429.3(BCO1):c.801A>T (p.Arg267Ser)	BCO1 (R267S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305012	NM_017429.3(BCO1):c.829C>T (p.His277Tyr)	BCO1 (H277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244108	NM_017429.3(BCO1):c.843+273A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233865	NM_017429.3(BCO1):c.844-5T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2512572	NM_017429.3(BCO1):c.928G>A (p.Val310Ile)	BCO1 (V310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397428	NM_017429.3(BCO1):c.935C>G (p.Ala312Gly)	BCO1 (A312G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045002	NM_017429.3(BCO1):c.950G>A (p.Gly317Asp)	BCO1 (G317D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133530	NM_017429.3(BCO1):c.958G>A (p.Val320Met)	BCO1 (V320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351132	NM_017429.3(BCO1):c.971T>C (p.Ile324Thr)	BCO1 (I324T)	Single nucleotide variant (missense variant)	BCO1-related disorder	GLikely benign
Select item 3133522	NM_017429.3(BCO1):c.1023C>G (p.Asn341Lys)	BCO1 (N341K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232939	NM_017429.3(BCO1):c.1055C>T (p.Ser352Leu)	BCO1 (S352L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133524	NM_017429.3(BCO1):c.1082T>C (p.Val361Ala)	BCO1 (V361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332097	NM_017429.3(BCO1):c.1093G>A (p.Val365Met)	BCO1 (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296746	NM_017429.3(BCO1):c.1101+48C>T	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294500	NM_017429.3(BCO1):c.1102-81T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041523	NM_017429.3(BCO1):c.1102-10A>G	BCO1	Single nucleotide variant (intron variant)	BCO1-related disorder	GLikely benign
Select item 2456650	NM_017429.3(BCO1):c.1111G>T (p.Val371Leu)	BCO1 (V371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253021	NM_017429.3(BCO1):c.1136C>T (p.Ala379Val)	BCO1 (A379V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2532639	NM_017429.3(BCO1):c.1141A>G (p.Thr381Ala)	BCO1 (T381A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492662	NM_017429.3(BCO1):c.1151C>T (p.Thr384Met)	BCO1 (T384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133525	NM_017429.3(BCO1):c.1198C>G (p.Leu400Val)	BCO1 (L400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278740	NM_017429.3(BCO1):c.1208-263A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268161	NM_017429.3(BCO1):c.1302+199G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294458	NM_017429.3(BCO1):c.1303-70A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242403	NM_017429.3(BCO1):c.1303-13G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3133526	NM_017429.3(BCO1):c.1353C>A (p.Asp451Glu)	BCO1 (D451E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245217	NM_017429.3(BCO1):c.1355A>G (p.Asp452Gly)	BCO1 (D452G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336378	NM_017429.3(BCO1):c.1372C>T (p.Pro458Ser)	BCO1 (P458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230550	NM_017429.3(BCO1):c.1372C>A (p.Pro458Thr)	BCO1 (P458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260711	NM_017429.3(BCO1):c.1387G>A (p.Ala463Thr)	BCO1 (A463T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133527	NM_017429.3(BCO1):c.1394G>T (p.Gly465Val)	BCO1 (G465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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