26176[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	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 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 3313547	NM_025232.4(REEP4):c.770G>A (p.Ser257Asn)	REEP4 (S257N)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3152872	NM_025232.4(REEP4):c.763G>A (p.Val255Met)	REEP4 (V255M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2594688	NM_025232.4(REEP4):c.704G>A (p.Arg235Gln)	REEP4 (R235Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152871	NM_025232.4(REEP4):c.698C>T (p.Pro233Leu)	REEP4 (P233L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2479224	NM_025232.4(REEP4):c.676C>T (p.Arg226Cys)	REEP4 (R226C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569841	NM_025232.4(REEP4):c.662G>A (p.Arg221His)	REEP4 (R221H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2610597	NM_025232.4(REEP4):c.637C>T (p.Arg213Trp)	REEP4 (R213W)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3152870	NM_025232.4(REEP4):c.634G>T (p.Ala212Ser)	REEP4 (Q166H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408072	NM_025232.4(REEP4):c.634G>C (p.Ala212Pro)	REEP4 (Q166H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468229	NM_025232.4(REEP4):c.583G>A (p.Asp195Asn)	REEP4 (D195N)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3152869	NM_025232.4(REEP4):c.560G>A (p.Arg187Gln)	REEP4 (R187Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152868	NM_025232.4(REEP4):c.523G>A (p.Asp175Asn)	REEP4 (D175N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313548	NM_025232.4(REEP4):c.484G>A (p.Ala162Thr)	REEP4 (A162T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389168	NM_025232.4(REEP4):c.475A>T (p.Ile159Phe)	REEP4 (I159F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488813	NM_025232.4(REEP4):c.473C>T (p.Ser158Phe)	REEP4 (S158F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543044	NM_025232.4(REEP4):c.436G>T (p.Gly146Cys)	REEP4 (G146C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408143	NM_025232.4(REEP4):c.436G>A (p.Gly146Ser)	REEP4 (G146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287130	NM_025232.4(REEP4):c.382A>G (p.Ile128Val)	REEP4 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313550	NM_025232.4(REEP4):c.380A>G (p.Asn127Ser)	REEP4 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229902	NM_025232.4(REEP4):c.371G>A (p.Arg124Gln)	REEP4 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152866	NM_025232.4(REEP4):c.300G>C (p.Glu100Asp)	REEP4 (E100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620734	NM_025232.4(REEP4):c.265C>T (p.Arg89Cys)	REEP4 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383910	NM_025232.4(REEP4):c.250G>A (p.Ala84Thr)	REEP4 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313549	NM_025232.4(REEP4):c.221T>G (p.Leu74Arg)	REEP4 (L74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406964	NM_025232.4(REEP4):c.160G>A (p.Val54Ile)	REEP4 (V54I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152865	NM_025232.4(REEP4):c.154G>A (p.Glu52Lys)	REEP4 (E52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346668	NM_025232.4(REEP4):c.118A>T (p.Met40Leu)	REEP4 (M40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409783	NM_025232.4(REEP4):c.116T>C (p.Met39Thr)	REEP4 (M39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353599	NM_025232.4(REEP4):c.101A>T (p.Glu34Val)	REEP4 (E34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618215	NM_025232.4(REEP4):c.68C>T (p.Ser23Phe)	REEP4 (S23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548562	NM_025232.4(REEP4):c.48G>C (p.Met16Ile)	REEP4 (M16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152867	NM_025232.4(REEP4):c.46A>G (p.Met16Val)	REEP4 (M16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
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 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527423	GRCh37/hg19 8p21.3(chr8:21303187-22230498)	BMP1, DMTN +16 more	Copy number gain	not specified	GUncertain significance
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	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 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686077	GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3	BMP1, DMTN +9 more	Copy number gain	not provided	GUncertain significance
Select item 685557	GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	BMP1, DMTN +15 more	Copy number loss	not provided	GUncertain significance
Select item 685405	GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	BMP1, DMTN +16 more	Copy number gain	not provided	GUncertain significance

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