IGSF9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3108967	NM_001135050.2(IGSF9):c.3467G>A (p.Arg1156Gln)	IGSF9 (R1140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306901	NM_001135050.2(IGSF9):c.3419C>T (p.Ala1140Val)	IGSF9 (A1124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551194	NM_001135050.2(IGSF9):c.3395C>T (p.Thr1132Ile)	IGSF9 (T1116I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403461	NM_001135050.2(IGSF9):c.3328C>T (p.Arg1110Trp)	IGSF9 (R1110W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598001	NM_001135050.2(IGSF9):c.3310C>G (p.Leu1104Val)	IGSF9 (L1088V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337677	NM_001135050.2(IGSF9):c.3208C>T (p.His1070Tyr)	IGSF9 (H1054Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358348	NM_001135050.2(IGSF9):c.2944C>T (p.Pro982Ser)	IGSF9 (P966S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339312	NM_001135050.2(IGSF9):c.2927C>A (p.Ser976Tyr)	IGSF9 (S976Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108966	NM_001135050.2(IGSF9):c.2909C>T (p.Pro970Leu)	IGSF9 (P970L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525116	NM_001135050.2(IGSF9):c.2878C>T (p.Arg960Cys)	IGSF9 (R960C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599732	NM_001135050.2(IGSF9):c.2876G>A (p.Arg959Gln)	IGSF9 (R943Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285691	NM_001135050.2(IGSF9):c.2806A>G (p.Asn936Asp)	IGSF9 (N920D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108965	NM_001135050.2(IGSF9):c.2774A>G (p.Gln925Arg)	IGSF9 (Q909R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108964	NM_001135050.2(IGSF9):c.2762G>A (p.Gly921Glu)	IGSF9 (G905E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108963	NM_001135050.2(IGSF9):c.2728C>T (p.Pro910Ser)	IGSF9 (P894S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287668	NM_001135050.2(IGSF9):c.2705A>T (p.Asp902Val)	IGSF9 (D886V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527346	NM_001135050.2(IGSF9):c.2684C>A (p.Pro895His)	IGSF9 (P879H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108962	NM_001135050.2(IGSF9):c.2683C>A (p.Pro895Thr)	IGSF9 (P895T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285683	NM_001135050.2(IGSF9):c.2678G>A (p.Gly893Glu)	IGSF9 (G893E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487398	NM_001135050.2(IGSF9):c.2641G>A (p.Ala881Thr)	IGSF9 (A881T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285682	NM_001135050.2(IGSF9):c.2635C>A (p.Arg879Ser)	IGSF9 (R863S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108961	NM_001135050.2(IGSF9):c.2594G>A (p.Arg865Lys)	IGSF9 (R865K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285692	NM_001135050.2(IGSF9):c.2585C>A (p.Pro862His)	IGSF9 (P846H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381806	NM_001135050.2(IGSF9):c.2551G>A (p.Gly851Arg)	IGSF9 (G835R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3108960	NM_001135050.2(IGSF9):c.2516C>G (p.Pro839Arg)	IGSF9 (P839R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330950	NM_001135050.2(IGSF9):c.2488C>G (p.His830Asp)	IGSF9 (H814D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311978	NM_001135050.2(IGSF9):c.2485C>A (p.Pro829Thr)	IGSF9 (P829T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328849	NM_001135050.2(IGSF9):c.2461G>A (p.Gly821Arg)	IGSF9 (G805R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363312	NM_001135050.2(IGSF9):c.2404G>T (p.Ala802Ser)	IGSF9 (A786S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108959	NM_001135050.2(IGSF9):c.2399G>C (p.Ser800Thr)	IGSF9 (S784T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108958	NM_001135050.2(IGSF9):c.2339T>C (p.Ile780Thr)	IGSF9 (I780T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558135	NM_001135050.2(IGSF9):c.2270G>C (p.Gly757Ala)	IGSF9 (G757A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332673	NM_001135050.2(IGSF9):c.2269G>A (p.Gly757Ser)	IGSF9 (G741S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459034	NM_001135050.2(IGSF9):c.2183C>T (p.Pro728Leu)	IGSF9 (P712L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319414	NM_001135050.2(IGSF9):c.2162A>G (p.Tyr721Cys)	IGSF9 (Y721C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108956	NM_001135050.2(IGSF9):c.2126A>G (p.Asn709Ser)	IGSF9 (N693S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299753	NM_001135050.2(IGSF9):c.2099C>T (p.Ala700Val)	IGSF9 (A684V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455520	NM_001135050.2(IGSF9):c.2089G>A (p.Val697Met)	IGSF9 (V681M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605165	NM_001135050.2(IGSF9):c.2072T>C (p.Leu691Pro)	IGSF9 (L675P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108955	NM_001135050.2(IGSF9):c.2015C>G (p.Pro672Arg)	IGSF9 (P672R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285684	NM_001135050.2(IGSF9):c.1979G>A (p.Gly660Asp)	IGSF9 (G644D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108954	NM_001135050.2(IGSF9):c.1948C>A (p.Pro650Thr)	IGSF9 (P634T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285687	NM_001135050.2(IGSF9):c.1937C>T (p.Pro646Leu)	IGSF9 (P646L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474363	NM_001135050.2(IGSF9):c.1909C>T (p.Arg637Trp)	IGSF9 (R637W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334598	NM_001135050.2(IGSF9):c.1874C>T (p.Ser625Phe)	IGSF9 (S609F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108953	NM_001135050.2(IGSF9):c.1847C>T (p.Pro616Leu)	IGSF9 (P600L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326930	NM_001135050.2(IGSF9):c.1804G>C (p.Ala602Pro)	IGSF9 (A586P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242364	NM_001135050.2(IGSF9):c.1750G>C (p.Val584Leu)	IGSF9 (V584L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460684	NM_001135050.2(IGSF9):c.1743G>C (p.Gln581His)	IGSF9 (Q581H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457986	NM_001135050.2(IGSF9):c.1715C>G (p.Pro572Arg)	IGSF9 (P556R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108952	NM_001135050.2(IGSF9):c.1702C>T (p.His568Tyr)	IGSF9 (H568Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223923	NM_001135050.2(IGSF9):c.1690G>A (p.Val564Met)	IGSF9 (V564M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259096	NM_001135050.2(IGSF9):c.1655G>A (p.Arg552Gln)	IGSF9 (R536Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543223	NM_001135050.2(IGSF9):c.1646G>A (p.Arg549His)	IGSF9 (R549H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108950	NM_001135050.2(IGSF9):c.1546G>C (p.Val516Leu)	IGSF9 (V516L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393684	NM_001135050.2(IGSF9):c.1370G>A (p.Arg457Gln)	IGSF9 (R441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108949	NM_001135050.2(IGSF9):c.1342C>T (p.Pro448Ser)	IGSF9 (P448S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308615	NM_001135050.2(IGSF9):c.1324G>T (p.Ala442Ser)	IGSF9 (A426S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261823	NM_001135050.2(IGSF9):c.1301G>A (p.Arg434Gln)	IGSF9 (R418Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108946	NM_001135050.2(IGSF9):c.1290A>C (p.Gln430His)	IGSF9 (Q430H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276982	NM_001135050.2(IGSF9):c.1285T>G (p.Phe429Val)	IGSF9 (F413V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589667	NM_001135050.2(IGSF9):c.1268G>A (p.Arg423Gln)	IGSF9 (R423Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590957	NM_001135050.2(IGSF9):c.1246G>C (p.Ala416Pro)	IGSF9 (A416P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639489	NM_001135050.2(IGSF9):c.1212C>T (p.Ala404=)	IGSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308069	NM_001135050.2(IGSF9):c.1210G>A (p.Ala404Thr)	IGSF9 (A404T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730642	NM_001135050.2(IGSF9):c.1109C>T (p.Pro370Leu)	IGSF9 (P354L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2460961	NM_001135050.2(IGSF9):c.1039C>T (p.Arg347Cys)	IGSF9 (R331C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354741	NM_001135050.2(IGSF9):c.1012A>G (p.Met338Val)	IGSF9 (M322V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392848	NM_001135050.2(IGSF9):c.982A>G (p.Met328Val)	IGSF9 (M328V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392086	NM_001135050.2(IGSF9):c.859C>T (p.Arg287Trp)	IGSF9 (R287W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1255031	NM_001135050.2(IGSF9):c.747T>C (p.His249=)	IGSF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3285685	NM_001135050.2(IGSF9):c.710C>T (p.Thr237Ile)	IGSF9 (T237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108969	NM_001135050.2(IGSF9):c.677C>T (p.Pro226Leu)	IGSF9 (P226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285688	NM_001135050.2(IGSF9):c.644C>T (p.Ala215Val)	IGSF9 (A215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108968	NM_001135050.2(IGSF9):c.569C>T (p.Thr190Met)	IGSF9 (T190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407583	NM_001135050.2(IGSF9):c.427C>T (p.Pro143Ser)	IGSF9 (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378569	NM_001135050.2(IGSF9):c.370A>G (p.Asn124Asp)	IGSF9 (N124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395397	NM_001135050.2(IGSF9):c.349A>G (p.Ile117Val)	IGSF9 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312539	NM_001135050.2(IGSF9):c.328G>C (p.Val110Leu)	IGSF9 (V110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285689	NM_001135050.2(IGSF9):c.326G>A (p.Arg109His)	IGSF9 (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639490	NM_001135050.2(IGSF9):c.291T>C (p.Gly97=)	IGSF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610197	NM_001135050.2(IGSF9):c.227G>A (p.Arg76Gln)	IGSF9 (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285686	NM_001135050.2(IGSF9):c.158A>G (p.His53Arg)	IGSF9 (H53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273517	NM_001135050.2(IGSF9):c.158A>C (p.His53Pro)	IGSF9 (H53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302491	NM_001135050.2(IGSF9):c.155T>C (p.Leu52Pro)	IGSF9 (L52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457055	NM_001135050.2(IGSF9):c.149C>A (p.Pro50His)	IGSF9 (P50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373105	NM_001135050.2(IGSF9):c.149C>G (p.Pro50Arg)	IGSF9 (P50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356536	NM_001135050.2(IGSF9):c.149C>T (p.Pro50Leu)	IGSF9 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235777	NM_001135050.2(IGSF9):c.139G>A (p.Ala47Thr)	IGSF9 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108948	NM_001135050.2(IGSF9):c.133C>T (p.Pro45Ser)	IGSF9 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602358	NM_001135050.2(IGSF9):c.83C>T (p.Ser28Leu)	IGSF9 (S28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544761	NM_001135050.2(IGSF9):c.62G>A (p.Arg21Gln)	IGSF9 (R21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285690	NM_001135050.2(IGSF9):c.45C>G (p.Ser15Arg)	IGSF9 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279255	NM_001135050.2(IGSF9):c.29T>G (p.Leu10Arg)	IGSF9 (L10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance

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