23746[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	LOC130059149, LOC130059150 +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	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 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	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 149552	GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3	CDH13, CDH13-AS2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 60063	GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3	CDH13, CDH13-AS2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 60064	GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3	CDH13, CDH13-AS2 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 2494404	NM_182981.3(OSGIN1):c.676C>G (p.Leu226Val)	NECAB2, OSGIN1 (L226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207153	NM_182981.3(OSGIN1):c.722A>G (p.Asn241Ser)	NECAB2, OSGIN1 (N241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264085	NM_182981.3(OSGIN1):c.743C>A (p.Thr248Lys)	NECAB2, OSGIN1 (T248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204046	NM_182981.3(OSGIN1):c.755C>T (p.Pro252Leu)	NECAB2, OSGIN1 (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487968	NM_182981.3(OSGIN1):c.772C>T (p.Pro258Ser)	NECAB2, OSGIN1 (P258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207154	NM_182981.3(OSGIN1):c.821C>T (p.Ala274Val)	NECAB2, OSGIN1 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207155	NM_182981.3(OSGIN1):c.848C>T (p.Pro283Leu)	NECAB2, OSGIN1 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282943	NM_182981.3(OSGIN1):c.866T>A (p.Leu289His)	NECAB2, OSGIN1 (L289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344136	NM_182981.3(OSGIN1):c.913C>T (p.Arg305Cys)	NECAB2, OSGIN1 (R305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280521	NM_182981.3(OSGIN1):c.914G>A (p.Arg305His)	NECAB2, OSGIN1 (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396194	NM_182981.3(OSGIN1):c.940G>A (p.Ala314Thr)	NECAB2, OSGIN1 (A314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477208	NM_182981.3(OSGIN1):c.997C>A (p.Leu333Met)	NECAB2, OSGIN1 (L333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207149	NM_182981.3(OSGIN1):c.1009T>C (p.Tyr337His)	NECAB2, OSGIN1 (Y337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321264	NM_182981.3(OSGIN1):c.1059C>A (p.Ser353Arg)	NECAB2, OSGIN1 (S353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333997	NM_182981.3(OSGIN1):c.1089G>T (p.Arg363Ser)	NECAB2, OSGIN1 (R363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477207	NM_182981.3(OSGIN1):c.1127T>G (p.Val376Gly)	NECAB2, OSGIN1 (V376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207150	NM_182981.3(OSGIN1):c.1264G>A (p.Ala422Thr)	NECAB2, OSGIN1 (A422T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386006	NM_182981.3(OSGIN1):c.1285G>A (p.Val429Met)	NECAB2, OSGIN1 (V429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265500	NM_182981.3(OSGIN1):c.1331C>T (p.Ala444Val)	NECAB2, OSGIN1 (A444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190136	NM_019065.3(NECAB2):c.11G>C (p.Arg4Pro)	NECAB2 (R4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351167	NM_019065.3(NECAB2):c.32C>T (p.Ala11Val)	NECAB2 (A11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615963	NM_019065.3(NECAB2):c.59C>A (p.Pro20Gln)	NECAB2 (P20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534321	NM_019065.3(NECAB2):c.65A>C (p.Gln22Pro)	NECAB2 (Q22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534318	NM_019065.3(NECAB2):c.128A>C (p.Glu43Ala)	NECAB2 (E43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534320	NM_019065.3(NECAB2):c.130T>C (p.Ser44Pro)	NECAB2 (S44P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2249624	NM_019065.3(NECAB2):c.151G>C (p.Ala51Pro)	NECAB2 (A51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378507	NM_019065.3(NECAB2):c.155A>C (p.Asp52Ala)	NECAB2 (D52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229643	NM_019065.3(NECAB2):c.184A>C (p.Thr62Pro)	NECAB2 (T62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190151	NM_019065.3(NECAB2):c.211C>A (p.Arg71Ser)	NECAB2 (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236000	NM_019065.3(NECAB2):c.211C>T (p.Arg71Cys)	NECAB2 (R71C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362073	NM_019065.3(NECAB2):c.310C>G (p.His104Asp)	NECAB2 (H104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398772	NM_019065.3(NECAB2):c.314C>T (p.Thr105Met)	NECAB2 (R31* +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243222	NM_019065.3(NECAB2):c.403G>C (p.Ala135Pro)	NECAB2 (A135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190162	NM_019065.3(NECAB2):c.409C>G (p.Leu137Val)	NECAB2 (L54V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 3190164	NM_019065.3(NECAB2):c.488A>G (p.Gln163Arg)	NECAB2 (Q163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190165	NM_019065.3(NECAB2):c.497C>T (p.Thr166Ile)	NECAB2 (T166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190167	NM_019065.3(NECAB2):c.518C>A (p.Thr173Lys)	NECAB2 (T173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402071	NM_019065.3(NECAB2):c.518C>T (p.Thr173Met)	NECAB2 (T90M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260407	NM_019065.3(NECAB2):c.524A>G (p.Asn175Ser)	NECAB2 (N175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190173	NM_019065.3(NECAB2):c.526C>G (p.Gln176Glu)	NECAB2 (Q176E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377520	NM_019065.3(NECAB2):c.557G>A (p.Ser186Asn)	NECAB2 (S103N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190177	NM_019065.3(NECAB2):c.581A>T (p.Gln194Leu)	NECAB2 (Q111L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358699	NM_019065.3(NECAB2):c.598C>G (p.Gln200Glu)	NECAB2 (Q117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512605	NM_019065.3(NECAB2):c.609C>G (p.Ile203Met)	NECAB2 (I120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268704	NM_019065.3(NECAB2):c.629C>T (p.Ala210Val)	NECAB2 (A127V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208090	NM_019065.3(NECAB2):c.649C>A (p.Pro217Thr)	NECAB2 (P134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547379	NM_019065.3(NECAB2):c.653C>T (p.Thr218Ile)	NECAB2 (T135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406473	NM_019065.3(NECAB2):c.674A>G (p.His225Arg)	NECAB2 (H142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343707	NM_019065.3(NECAB2):c.675C>G (p.His225Gln)	NECAB2 (H142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621178	NM_019065.3(NECAB2):c.716C>A (p.Ala239Asp)	NECAB2 (A156D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396556	NM_019065.3(NECAB2):c.719C>T (p.Thr240Met)	NECAB2 (T157M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351368	NM_019065.3(NECAB2):c.766G>A (p.Ala256Thr)	NECAB2 (A173T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356667	NM_019065.3(NECAB2):c.821G>A (p.Arg274His)	NECAB2 (R191H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291895	NM_019065.3(NECAB2):c.842C>G (p.Thr281Ser)	NECAB2 (T281S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388787	NM_019065.3(NECAB2):c.848T>A (p.Met283Lys)	NECAB2 (M283K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209465	NM_019065.3(NECAB2):c.859C>G (p.Leu287Val)	NECAB2 (L204V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367444	NM_019065.3(NECAB2):c.865C>T (p.Arg289Trp)	NECAB2 (R206W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610151	NM_019065.3(NECAB2):c.876G>A (p.Met292Ile)	NECAB2 (M274I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312998	NM_019065.3(NECAB2):c.878C>A (p.Ala293Asp)	NECAB2 (A210D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590994	NM_019065.3(NECAB2):c.889G>A (p.Glu297Lys)	NECAB2 (E214K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190225	NM_019065.3(NECAB2):c.931C>T (p.Arg311Trp)	NECAB2 (R293W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390490	NM_019065.3(NECAB2):c.932G>A (p.Arg311Gln)	NECAB2 (R228Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292088	NM_019065.3(NECAB2):c.946G>A (p.Val316Met)	NECAB2 (V233M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190229	NM_019065.3(NECAB2):c.982T>A (p.Ser328Thr)	NECAB2 (S310T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520895	NM_019065.3(NECAB2):c.989G>C (p.Gly330Ala)	NECAB2 (G312A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190114	NM_019065.3(NECAB2):c.1020G>C (p.Glu340Asp)	NECAB2 (E340D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477528	NM_019065.3(NECAB2):c.1054C>T (p.Pro352Ser)	NECAB2 (P269S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235264	NM_019065.3(NECAB2):c.1070T>G (p.Phe357Cys)	NECAB2 (F357C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456859	NM_019065.3(NECAB2):c.1072C>T (p.Arg358Trp)	NECAB2 (R275W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464203	NM_019065.3(NECAB2):c.1073G>A (p.Arg358Gln)	NECAB2 (R340Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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