PINX1[gene] - 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 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 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 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 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 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 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 152960	GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1	C8orf74, CRE3 +34 more	Copy number loss	See cases	GPathogenic
Select item 60348	GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1	BLK, C8orf74 +86 more	Copy number loss	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 150794	GRCh38/hg38 8p23.1(chr8:10379998-10970694)x3	C8orf74, CRE3 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 2536526	NM_017884.6(PINX1):c.973A>G (p.Lys325Glu)	LOC102723313, PINX1 (K325E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2395378	NM_017884.6(PINX1):c.963G>C (p.Lys321Asn)	LOC102723313, PINX1 (K321N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213126	NM_017884.6(PINX1):c.911A>C (p.Lys304Thr)	LOC102723313, PINX1 (K304T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339497	NM_017884.6(PINX1):c.890G>C (p.Arg297Thr)	LOC102723313, PINX1 (R297T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306672	NM_017884.6(PINX1):c.872T>C (p.Leu291Pro)	LOC102723313, PINX1 (L291P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2596543	NM_017884.6(PINX1):c.867C>A (p.Phe289Leu)	LOC102723313, PINX1 (F289L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306671	NM_017884.6(PINX1):c.860G>A (p.Arg287Gln)	LOC102723313, PINX1 (R287Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2405167	NM_017884.6(PINX1):c.856G>A (p.Gly286Ser)	LOC102723313, PINX1 (G286S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490598	NM_017884.6(PINX1):c.848C>T (p.Pro283Leu)	LOC102723313, PINX1 (P283L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306674	NM_017884.6(PINX1):c.841G>C (p.Val281Leu)	LOC102723313, PINX1 (V281L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335378	NM_017884.6(PINX1):c.815C>T (p.Ala272Val)	LOC102723313, PINX1 (A272V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213125	NM_017884.6(PINX1):c.769G>C (p.Ala257Pro)	LOC102723313, PINX1 (A257P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339146	NM_017884.6(PINX1):c.767C>T (p.Pro256Leu)	LOC102723313, PINX1 (P256L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552464	NM_017884.6(PINX1):c.764C>G (p.Ala255Gly)	LOC102723313, PINX1 (A255G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2339145	NM_017884.6(PINX1):c.764C>T (p.Ala255Val)	LOC102723313, PINX1 (A255V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458256	NM_017884.6(PINX1):c.763G>A (p.Ala255Thr)	LOC102723313, PINX1 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213123	NM_017884.6(PINX1):c.762C>A (p.Ser254Arg)	LOC102723313, PINX1 (S254R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3306670	NM_017884.6(PINX1):c.759G>C (p.Lys253Asn)	LOC102723313, PINX1 (K253N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596321	NM_017884.6(PINX1):c.733G>A (p.Ala245Thr)	LOC102723313, PINX1 (A245T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2549256	NM_017884.6(PINX1):c.733G>T (p.Ala245Ser)	LOC102723313, PINX1 (A245S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530964	NM_017884.6(PINX1):c.730G>A (p.Glu244Lys)	LOC102723313, PINX1 (E244K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213122	NM_017884.6(PINX1):c.711G>C (p.Glu237Asp)	LOC102723313, PINX1 (E237D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213121	NM_017884.6(PINX1):c.710A>G (p.Glu237Gly)	LOC102723313, PINX1 (E237G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213120	NM_017884.6(PINX1):c.707C>T (p.Thr236Met)	LOC102723313, PINX1 (T236M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213119	NM_017884.6(PINX1):c.705C>G (p.His235Gln)	LOC102723313, PINX1 (H235Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596320	NM_017884.6(PINX1):c.688C>A (p.Pro230Thr)	LOC102723313, PINX1 (P230T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 789598	NM_017884.6(PINX1):c.684C>G (p.Leu228=)	LOC102723313, PINX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2608894	NM_017884.6(PINX1):c.668A>T (p.Asp223Val)	LOC102723313, PINX1 (D223V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306668	NM_017884.6(PINX1):c.604A>G (p.Ile202Val)	LOC102723313, PINX1 (I202V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356805	NM_017884.6(PINX1):c.599C>G (p.Ser200Cys)	LOC102723313, PINX1 (S200C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2513761	NM_017884.6(PINX1):c.589G>T (p.Val197Phe)	LOC102723313, PINX1 (S171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554101	NM_017884.6(PINX1):c.563C>T (p.Ala188Val)	LOC102723313, PINX1 (A188V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3213118	NM_017884.6(PINX1):c.517A>G (p.Thr173Ala)	LOC102723313, PINX1 (T173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306669	NM_017884.6(PINX1):c.515C>A (p.Thr172Lys)	LOC102723313, PINX1 (D146E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294590	NM_017884.6(PINX1):c.469G>C (p.Glu157Gln)	PINX1 (E157Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494983	NM_017884.6(PINX1):c.463A>G (p.Thr155Ala)	PINX1 (T155A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306676	NM_017884.6(PINX1):c.462G>C (p.Lys154Asn)	PINX1 (K154N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359578	NM_017884.6(PINX1):c.452A>G (p.Gln151Arg)	PINX1 (Q151R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213117	NM_017884.6(PINX1):c.389C>T (p.Thr130Ile)	PINX1 (T130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537063	NM_017884.6(PINX1):c.311A>G (p.Asp104Gly)	PINX1 (D104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213116	NM_017884.6(PINX1):c.308C>T (p.Ser103Leu)	PINX1 (S103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277221	NM_017884.6(PINX1):c.299C>T (p.Thr100Ile)	PINX1 (T100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513448	NM_017884.6(PINX1):c.268G>A (p.Glu90Lys)	PINX1 (E90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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