14941[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 3217526	NM_001329443.2(PPP1R16A):c.7G>A (p.Glu3Lys)	PPP1R16A (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208961	NM_001329443.2(PPP1R16A):c.91G>A (p.Ala31Thr)	PPP1R16A (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356924	NM_001329443.2(PPP1R16A):c.139A>G (p.Lys47Glu)	PPP1R16A (K47E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599199	NM_001329443.2(PPP1R16A):c.181C>A (p.Gln61Lys)	PPP1R16A (Q61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400705	NM_001329443.2(PPP1R16A):c.185G>A (p.Gly62Glu)	PPP1R16A (G62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309377	NM_001329443.2(PPP1R16A):c.187C>T (p.Leu63Phe)	PPP1R16A (L63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309375	NM_001329443.2(PPP1R16A):c.235G>A (p.Ala79Thr)	PPP1R16A (A79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217522	NM_001329443.2(PPP1R16A):c.385A>G (p.Asn129Asp)	PPP1R16A (N129D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236502	NM_001329443.2(PPP1R16A):c.472G>T (p.Ala158Ser)	PPP1R16A (A158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465100	NM_001329443.2(PPP1R16A):c.521A>G (p.Tyr174Cys)	PPP1R16A (Y174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218544	NM_001329443.2(PPP1R16A):c.552C>A (p.Asp184Glu)	PPP1R16A (D184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399618	NM_001329443.2(PPP1R16A):c.611G>T (p.Arg204Leu)	PPP1R16A (R204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327372	NM_001329443.2(PPP1R16A):c.616G>C (p.Val206Leu)	PPP1R16A (V206L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318080	NM_001329443.2(PPP1R16A):c.653G>A (p.Arg218Gln)	PPP1R16A (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217523	NM_001329443.2(PPP1R16A):c.670G>A (p.Asp224Asn)	PPP1R16A (D224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217524	NM_001329443.2(PPP1R16A):c.677A>T (p.His226Leu)	PPP1R16A (H226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513712	NM_001329443.2(PPP1R16A):c.745G>A (p.Ala249Thr)	PPP1R16A (A249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309381	NM_001329443.2(PPP1R16A):c.868G>A (p.Asp290Asn)	PPP1R16A (D290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526781	NM_001329443.2(PPP1R16A):c.917G>C (p.Gly306Ala)	LOC130001407, PPP1R16A (G306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311199	NM_001329443.2(PPP1R16A):c.922G>A (p.Glu308Lys)	LOC130001407, PPP1R16A (E308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283870	NM_001329443.2(PPP1R16A):c.955C>A (p.His319Asn)	LOC130001407, PPP1R16A (H319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333033	NM_001329443.2(PPP1R16A):c.964G>A (p.Asp322Asn)	LOC130001407, PPP1R16A (D322N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459087	NM_001329443.2(PPP1R16A):c.1027G>C (p.Gly343Arg)	LOC130001407, PPP1R16A (G343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309379	NM_001329443.2(PPP1R16A):c.1034G>C (p.Arg345Pro)	LOC130001407, PPP1R16A (R345P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386355	NM_001329443.2(PPP1R16A):c.1051C>T (p.Arg351Trp)	LOC130001407, PPP1R16A (R351W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217514	NM_001329443.2(PPP1R16A):c.1096G>A (p.Ala366Thr)	LOC130001407, PPP1R16A (A366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292259	NM_001329443.2(PPP1R16A):c.1105G>A (p.Ala369Thr)	LOC130001407, PPP1R16A (A369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217515	NM_001329443.2(PPP1R16A):c.1136G>A (p.Ser379Asn)	PPP1R16A (S379N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247215	NM_001329443.2(PPP1R16A):c.1156A>G (p.Asn386Asp)	PPP1R16A (N386D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207920	NM_001329443.2(PPP1R16A):c.1163A>C (p.Asp388Ala)	PPP1R16A (D388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493550	NM_001329443.2(PPP1R16A):c.1175G>C (p.Gly392Ala)	PPP1R16A (G392A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658993	NM_001329443.2(PPP1R16A):c.1188G>A (p.Arg396=)	PPP1R16A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539277	NM_001329443.2(PPP1R16A):c.1229C>T (p.Pro410Leu)	PPP1R16A (P410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620606	NM_001329443.2(PPP1R16A):c.1231C>T (p.His411Tyr)	PPP1R16A (H411Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283597	NM_001329443.2(PPP1R16A):c.1258G>A (p.Val420Met)	PPP1R16A (V420M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338992	NM_001329443.2(PPP1R16A):c.1265A>T (p.His422Leu)	PPP1R16A (H422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217517	NM_001329443.2(PPP1R16A):c.1274C>T (p.Ser425Phe)	PPP1R16A (S425F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309378	NM_001329443.2(PPP1R16A):c.1280G>A (p.Arg427Gln)	PPP1R16A (R427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309380	NM_001329443.2(PPP1R16A):c.1289G>C (p.Arg430Pro)	PPP1R16A (R430P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217518	NM_001329443.2(PPP1R16A):c.1313C>T (p.Pro438Leu)	PPP1R16A (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309374	NM_001329443.2(PPP1R16A):c.1328C>T (p.Thr443Ile)	PPP1R16A (T443I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320844	NM_001329443.2(PPP1R16A):c.1333C>G (p.His445Asp)	PPP1R16A (H445D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258117	NM_001329443.2(PPP1R16A):c.1333C>T (p.His445Tyr)	PPP1R16A (H445Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217520	NM_001329443.2(PPP1R16A):c.1349A>G (p.Asp450Gly)	PPP1R16A (D450G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345779	NM_001329443.2(PPP1R16A):c.1381C>T (p.Arg461Cys)	PPP1R16A (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508204	NM_001329443.2(PPP1R16A):c.1445C>G (p.Ala482Gly)	PPP1R16A (A482G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309376	NM_001329443.2(PPP1R16A):c.1481A>G (p.Gln494Arg)	PPP1R16A (Q494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309382	NM_001329443.2(PPP1R16A):c.1484C>T (p.Pro495Leu)	PPP1R16A (P495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467286	NM_001329443.2(PPP1R16A):c.1538C>T (p.Pro513Leu)	PPP1R16A (P513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400071	NM_001329443.2(PPP1R16A):c.1552C>T (p.Pro518Ser)	PPP1R16A (P518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390510	NM_001329443.2(PPP1R16A):c.1552C>G (p.Pro518Ala)	PPP1R16A (P518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387234	NM_001329443.2(PPP1R16A):c.1555G>A (p.Val519Met)	PPP1R16A (V519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 980336	GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3	MIR1234, PPP1R16A +19 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic

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