5327[Gene ID] - 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 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	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 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 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 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 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	LOC130000285, LOC130000286 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 716389	NM_000930.5(PLAT):c.1681C>T (p.Arg561Ter)	PLAT (R472* +2 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2209355	NM_000930.5(PLAT):c.1633G>A (p.Val545Met)	PLAT (V456M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712061	NM_000930.5(PLAT):c.1629G>A (p.Pro543=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315130	NM_000930.5(PLAT):c.1628C>T (p.Pro543Leu)	PLAT (P454L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210705	NM_000930.5(PLAT):c.1571G>A (p.Arg524His)	PLAT (R524H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520910	NM_000930.5(PLAT):c.1564G>A (p.Asp522Asn)	PLAT (D433N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708039	NM_000930.5(PLAT):c.1539G>A (p.Ser513=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 810282	NM_000930.5(PLAT):c.1481G>C (p.Gly494Ala)	PLAT (G494A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712804	NM_000930.5(PLAT):c.1479T>A (p.Ala493=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733501	NM_000930.5(PLAT):c.1411T>C (p.Tyr471His)	PLAT (Y425H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3214299	NM_000930.5(PLAT):c.1379C>T (p.Ser460Leu)	PLAT (S371L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214298	NM_000930.5(PLAT):c.1348G>A (p.Gly450Ser)	PLAT (G361S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370239	NM_000930.5(PLAT):c.1328A>C (p.Glu443Ala)	PLAT (E354A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307272	NM_000930.5(PLAT):c.1325C>T (p.Thr442Met)	PLAT (T353M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827598	NM_000930.5(PLAT):c.1323_1325delinsTAT (p.Trp441_Thr442delinsCysMet)	PLAT	Indel (missense variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 3214297	NM_000930.5(PLAT):c.1324A>G (p.Thr442Ala)	PLAT (T442A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307271	NM_000930.5(PLAT):c.1323G>T (p.Trp441Cys)	PLAT (W395C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616073	NM_000930.5(PLAT):c.1311G>C (p.Gln437His)	PLAT (Q391H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223836	NM_000930.5(PLAT):c.1301C>A (p.Ala434Glu)	PLAT (A345E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626986	NM_000930.5(PLAT):c.1271G>T (p.Ser424Ile)	PLAT (S424I +2 more)	Single nucleotide variant (missense variant)	Deep venous thrombosis	GUncertain significance
Select item 2323771	NM_000930.5(PLAT):c.1266G>C (p.Glu422Asp)	PLAT (E333D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623662	NM_000930.5(PLAT):c.1253G>A (p.Arg418His)	PLAT (R329H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 757110	NM_000930.5(PLAT):c.1251C>T (p.Ser417=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605179	NM_000930.5(PLAT):c.1214A>G (p.Asn405Ser)	PLAT (N316S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754595	NM_000930.5(PLAT):c.1173A>G (p.Lys391=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783523	NM_000930.5(PLAT):c.1167C>A (p.Val389=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768236	NM_000930.5(PLAT):c.1167C>G (p.Val389=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3214295	NM_000930.5(PLAT):c.1150G>C (p.Glu384Gln)	PLAT (E295Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747697	NM_000930.5(PLAT):c.1131G>A (p.Arg377=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3214294	NM_000930.5(PLAT):c.1118G>C (p.Gly373Ala)	PLAT (G373A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618572	NM_000930.5(PLAT):c.1093C>A (p.Pro365Thr)	PLAT (P319T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988863	NM_000930.5(PLAT):c.928C>T (p.Arg310Cys)	LOC130000295, PLAT (R221C +2 more)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 775085	NM_000930.5(PLAT):c.861G>A (p.Thr287=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772903	NM_000930.5(PLAT):c.860C>T (p.Thr287Met)	PLAT (T198M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2462402	NM_000930.5(PLAT):c.838G>A (p.Val280Met)	PLAT (V191M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728455	NM_000930.5(PLAT):c.837C>T (p.His279=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 627396	NM_000930.5(PLAT):c.826C>T (p.Pro276Ser)	PLAT (P276S +2 more)	Single nucleotide variant (missense variant)	Pulmonary embolism +1 more	GUncertain significance
Select item 3307274	NM_000930.5(PLAT):c.784G>C (p.Gly262Arg)	LOC130000296, PLAT (G262R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658581	NM_000930.5(PLAT):c.774A>C (p.Ala258=)	LOC130000296, PLAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3307273	NM_000930.5(PLAT):c.734T>C (p.Ile245Thr)	LOC130000296, PLAT (I199T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718562	NM_000930.5(PLAT):c.690C>T (p.Thr230=)	LOC130000296, PLAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740190	NM_000930.5(PLAT):c.614C>A (p.Thr205Asn)	PLAT (T159N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 743425	NM_000930.5(PLAT):c.585G>C (p.Ala195=)	PLAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2508315	NM_000930.5(PLAT):c.584C>T (p.Ala195Val)	PLAT (A149V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 799430	NM_000930.5(PLAT):c.573C>T (p.Tyr191=)	PLAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623330	NM_000930.5(PLAT):c.550C>G (p.Arg184Gly)	PLAT (R184G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214301	NM_000930.5(PLAT):c.505A>G (p.Ile169Val)	PLAT (I123V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2535757	NM_000930.5(PLAT):c.491G>A (p.Arg164Gln)	PLAT (R164Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516050	NM_000930.5(PLAT):c.463G>A (p.Ala155Thr)	PLAT (A109T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745888	NM_000930.5(PLAT):c.462C>T (p.Ser154=)	PLAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726452	NM_000930.5(PLAT):c.435C>T (p.Gly145=)	PLAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224663	NM_000930.5(PLAT):c.425C>T (p.Ala142Val)	PLAT (A96V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741328	NM_000930.5(PLAT):c.414G>A (p.Thr138=)	PLAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2689768	NM_000930.5(PLAT):c.385G>A (p.Glu129Lys)	PLAT (E129K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3214300	NM_000930.5(PLAT):c.319G>A (p.Val107Met)	PLAT (V107M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389697	NM_000930.5(PLAT):c.130G>A (p.Glu44Lys)	PLAT (E44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 268128	NM_000930.5(PLAT):c.102_103del (p.Arg35fs)	PLAT (R35fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 713754	NM_000930.5(PLAT):c.101C>A (p.Ala34Asp)	PLAT (A34D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 750938	NM_000930.5(PLAT):c.57C>T (p.Phe19=)	PLAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3245546	NC_000008.10:g.(?_41518984)_(42329908_?)dup	ANK1, AP3M2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
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 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 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 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2425642	NC_000008.10:g.(?_41518984)_(43054712_?)dup	ANK1, AP3M2 +16 more	Duplication	Torsion dystonia 6	GUncertain significance
Select item 2424198	NC_000008.10:g.(?_41518984)_(42698237_?)dup	ANK1, AP3M2 +11 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	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 1061009	NC_000008.10:g.(?_41905876)_(42188497_?)dup	AP3M2, IKBKB +2 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic

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