11941[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
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 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 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 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 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 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 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 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	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 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 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 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	DEFB103B, DEFB104A +256 more	Copy number gain	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 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 more	Copy number loss	See cases	GPathogenic
Select item 151010	GRCh38/hg38 8p23.1(chr8:8253505-9758024)x1	CLDN23, ERI1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 154448	GRCh38/hg38 8p23.1(chr8:8273108-9687019)x1	CLDN23, ERI1 +61 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 60347	GRCh38/hg38 8p23.1(chr8:8336212-9953226)x1	CLDN23, ERI1 +63 more	Copy number loss	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 144626	GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1	MTMR9, NEIL2 +160 more	Copy number loss	See cases	GPathogenic
Select item 153058	GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3	C8orf74, CRE3 +67 more	Copy number gain	See cases	GPathogenic
Select item 155447	GRCh38/hg38 8p23.1(chr8:9009853-10496260)x3	ERI1, LINC03022 +33 more	Copy number gain	See cases	GLikely benign
Select item 58399	GRCh38/hg38 8p23.1(chr8:9239988-10057038)x3	LOC105379230, LOC121268919 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145460	GRCh38/hg38 8p23.1(chr8:9240101-9687009)x3	LOC105379230, LOC121268919 +9 more	Copy number gain	See cases	GLikely benign
Select item 152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	C8orf74, CRE3 +34 more	Copy number loss	See cases	GPathogenic
Select item 145838	GRCh38/hg38 8p23.1(chr8:9543912-9567334)x1	LOC129999838, TNKS	Copy number loss	See cases	GLikely benign
Select item 2488138	NM_003747.3(TNKS):c.8C>A (p.Ala3Glu)	TNKS (A3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180436	NM_003747.3(TNKS):c.27T>A (p.His9Gln)	TNKS (H9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515735	NM_003747.3(TNKS):c.31C>T (p.His11Tyr)	TNKS (H11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208435	NM_003747.3(TNKS):c.58C>G (p.Pro20Ala)	TNKS (P20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327596	NM_003747.3(TNKS):c.59C>T (p.Pro20Leu)	TNKS (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180445	NM_003747.3(TNKS):c.67G>C (p.Gly23Arg)	TNKS (G23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690244	NM_003747.3(TNKS):c.71C>T (p.Ala24Val)	TNKS (A24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2514138	NM_003747.3(TNKS):c.103C>G (p.Leu35Val)	TNKS (L35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335785	NM_003747.3(TNKS):c.122C>T (p.Pro41Leu)	TNKS (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388944	NM_003747.3(TNKS):c.124G>C (p.Gly42Arg)	TNKS (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280408	NM_003747.3(TNKS):c.166T>G (p.Phe56Val)	TNKS (F56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180431	NM_003747.3(TNKS):c.173C>G (p.Ser58Cys)	TNKS (S58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263214	NM_003747.3(TNKS):c.206A>G (p.Asp69Gly)	TNKS (D69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244410	NM_003747.3(TNKS):c.230G>A (p.Arg77Lys)	TNKS (R77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373339	NM_003747.3(TNKS):c.239C>T (p.Ser80Phe)	TNKS (S80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532447	NM_003747.3(TNKS):c.271A>G (p.Ser91Gly)	TNKS (S91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550020	NM_003747.3(TNKS):c.274A>G (p.Thr92Ala)	TNKS (T92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789760	NM_003747.3(TNKS):c.285A>T (p.Thr95=)	TNKS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180438	NM_003747.3(TNKS):c.296T>G (p.Val99Gly)	TNKS (V99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363333	NM_003747.3(TNKS):c.358C>G (p.Pro120Ala)	TNKS (P120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334343	NM_003747.3(TNKS):c.424T>C (p.Ser142Pro)	TNKS (S142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250784	NM_003747.3(TNKS):c.427C>G (p.Pro143Ala)	TNKS (P143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787328	NM_003747.3(TNKS):c.444G>A (p.Ser148=)	TNKS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180444	NM_003747.3(TNKS):c.447C>G (p.Ser149Arg)	TNKS (S149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614502	NM_003747.3(TNKS):c.458G>A (p.Ser153Asn)	TNKS (S153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260050	NM_003747.3(TNKS):c.587C>G (p.Ser196Cys)	TNKS (S196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774240	NM_003747.3(TNKS):c.674-5T>C	TNKS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2274295	NM_003747.3(TNKS):c.711G>T (p.Gln237His)	TNKS (Q237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396273	NM_003747.3(TNKS):c.733C>T (p.Arg245Cys)	TNKS (R245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324763	NM_003747.3(TNKS):c.796A>C (p.Ser266Arg)	TNKS (S266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308936	NM_003747.3(TNKS):c.853C>T (p.Pro285Ser)	TNKS (P285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590586	NM_003747.3(TNKS):c.866C>G (p.Ala289Gly)	TNKS (A289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180446	NM_003747.3(TNKS):c.913G>A (p.Gly305Arg)	TNKS (G305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611671	NM_003747.3(TNKS):c.1037G>A (p.Gly346Asp)	TNKS (G346D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769740	NM_003747.3(TNKS):c.1047A>G (p.Glu349=)	TNKS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2316058	NM_003747.3(TNKS):c.1058C>A (p.Ala353Asp)	TNKS (A353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180428	NM_003747.3(TNKS):c.1111A>T (p.Thr371Ser)	TNKS (T371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180429	NM_003747.3(TNKS):c.1148G>A (p.Arg383Gln)	TNKS (R383Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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