17844[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 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 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 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 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
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 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +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 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
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 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 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 545214	NC_000016.10:g.(?_84593050)_(85516675_?)del	LOC121847997, LOC125177366 +70 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 3289011	NM_024731.4(KLHL36):c.26G>A (p.Arg9Gln)	KLHL36 (R9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536638	NM_024731.4(KLHL36):c.128G>A (p.Gly43Glu)	KLHL36 (G43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289010	NM_024731.4(KLHL36):c.142G>A (p.Val48Ile)	KLHL36 (V48I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256752	NM_024731.4(KLHL36):c.166C>T (p.Arg56Cys)	KLHL36 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407429	NM_024731.4(KLHL36):c.167G>A (p.Arg56His)	KLHL36 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289019	NM_024731.4(KLHL36):c.199T>C (p.Cys67Arg)	KLHL36 (C67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115725	NM_024731.4(KLHL36):c.215A>T (p.Asn72Ile)	KLHL36 (N72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490197	NM_024731.4(KLHL36):c.274G>A (p.Ala92Thr)	KLHL36 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221927	NM_024731.4(KLHL36):c.293A>G (p.Lys98Arg)	KLHL36 (K98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646926	NM_024731.4(KLHL36):c.300G>T (p.Val100=)	KLHL36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3289009	NM_024731.4(KLHL36):c.316G>A (p.Gly106Ser)	KLHL36 (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532929	NM_024731.4(KLHL36):c.334G>A (p.Asp112Asn)	KLHL36 (D112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115727	NM_024731.4(KLHL36):c.355G>A (p.Val119Ile)	KLHL36 (V119I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538107	NM_024731.4(KLHL36):c.389C>T (p.Thr130Met)	KLHL36 (T130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313985	NM_024731.4(KLHL36):c.467C>A (p.Ser156Tyr)	KLHL36 (S156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296448	NM_024731.4(KLHL36):c.485G>A (p.Arg162Gln)	KLHL36 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646927	NM_024731.4(KLHL36):c.531G>A (p.Thr177=)	KLHL36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115728	NM_024731.4(KLHL36):c.598A>G (p.Ser200Gly)	KLHL36 (S200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249838	NM_024731.4(KLHL36):c.613G>C (p.Glu205Gln)	KLHL36 (E205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601745	NM_024731.4(KLHL36):c.625G>A (p.Asp209Asn)	KLHL36 (D209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621523	NM_024731.4(KLHL36):c.656C>G (p.Thr219Arg)	KLHL36 (T219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646928	NM_024731.4(KLHL36):c.657G>A (p.Thr219=)	KLHL36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3289018	NM_024731.4(KLHL36):c.720C>G (p.Ile240Met)	KLHL36 (I240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115730	NM_024731.4(KLHL36):c.782C>T (p.Ala261Val)	KLHL36 (A261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115731	NM_024731.4(KLHL36):c.811G>A (p.Val271Met)	KLHL36 (V271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332149	NM_024731.4(KLHL36):c.833C>T (p.Ala278Val)	KLHL36 (A278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115732	NM_024731.4(KLHL36):c.860G>A (p.Arg287His)	KLHL36 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514642	NM_024731.4(KLHL36):c.872G>A (p.Arg291His)	KLHL36 (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471580	NM_024731.4(KLHL36):c.887G>T (p.Arg296Leu)	KLHL36 (R296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468062	NM_024731.4(KLHL36):c.887G>A (p.Arg296His)	KLHL36 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115733	NM_024731.4(KLHL36):c.892C>G (p.Leu298Val)	KLHL36 (L298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289012	NM_024731.4(KLHL36):c.919C>T (p.Arg307Trp)	KLHL36 (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522766	NM_024731.4(KLHL36):c.961A>C (p.Lys321Gln)	KLHL36 (K321Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534223	NM_024731.4(KLHL36):c.965G>A (p.Ser322Asn)	KLHL36 (S322N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319296	NM_024731.4(KLHL36):c.976G>A (p.Val326Ile)	KLHL36 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289015	NM_024731.4(KLHL36):c.989C>T (p.Pro330Leu)	KLHL36 (P330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275985	NM_024731.4(KLHL36):c.1022C>T (p.Ala341Val)	KLHL36 (A341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209657	NM_024731.4(KLHL36):c.1180T>G (p.Ser394Ala)	KLHL36 (S394A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303749	NM_024731.4(KLHL36):c.1226G>C (p.Gly409Ala)	KLHL36 (G409A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289016	NM_024731.4(KLHL36):c.1282G>A (p.Ala428Thr)	KLHL36 (A428T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289008	NM_024731.4(KLHL36):c.1285G>A (p.Gly429Ser)	KLHL36 (G429S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550335	NM_024731.4(KLHL36):c.1382A>G (p.Lys461Arg)	KLHL36 (K461R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268472	NM_024731.4(KLHL36):c.1405C>T (p.Arg469Trp)	KLHL36 (R406W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115720	NM_024731.4(KLHL36):c.1413C>G (p.Asp471Glu)	KLHL36 (D408E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534222	NM_024731.4(KLHL36):c.1438A>C (p.Thr480Pro)	KLHL36 (T417P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289017	NM_024731.4(KLHL36):c.1442C>T (p.Thr481Met)	KLHL36 (T418M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115721	NM_024731.4(KLHL36):c.1468A>G (p.Ser490Gly)	KLHL36 (S490G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569370	NM_024731.4(KLHL36):c.1511A>G (p.Asn504Ser)	KLHL36 (N504S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115722	NM_024731.4(KLHL36):c.1513A>G (p.Ile505Val)	KLHL36 (I505V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115723	NM_024731.4(KLHL36):c.1585G>A (p.Val529Met)	KLHL36 (V529M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526172	NM_024731.4(KLHL36):c.1693G>A (p.Val565Met)	KLHL36 (V565M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366301	NM_024731.4(KLHL36):c.1708C>T (p.Arg570Cys)	KLHL36 (R507C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596928	NM_024731.4(KLHL36):c.1709G>A (p.Arg570His)	KLHL36 (R570H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115724	NM_024731.4(KLHL36):c.1793G>A (p.Arg598Gln)	KLHL36 (R535Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245125	NM_024731.4(KLHL36):c.1839C>G (p.Asp613Glu)	KLHL36 (D550E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2684822	GRCh37/hg19 16q24.1(chr16:84613250-84998752)x3	COTL1, CRISPLD2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526539	GRCh37/hg19 16q24.1(chr16:84319435-85011988)	WFDC1, ZDHHC7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526538	GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751)	DNAAF1, HSDL1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 686655	GRCh37/hg19 16q24.1(chr16:84608098-85087145)x1	COTL1, CRISPLD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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