FSIP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 153682	GRCh38/hg38 2q32.1(chr2:185571260-185998642)x1	FSIP2, FSIP2-AS1 +4 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 3097279	NM_173651.2(FSIP2):c.31A>G (p.Arg11Gly)	FSIP2, FSIP2-AS2 (R11G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2378983	NM_173651.2(FSIP2):c.34C>T (p.Pro12Ser)	FSIP2, FSIP2-AS2 (P12S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2224924	NM_173651.2(FSIP2):c.65C>A (p.Ala22Glu)	FSIP2, FSIP2-AS2 (A22E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3097306	NM_173651.2(FSIP2):c.67C>T (p.Leu23Phe)	FSIP2, FSIP2-AS2 (L23F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373393	NM_173651.2(FSIP2):c.116G>T (p.Gly39Val)	FSIP2, FSIP2-AS2 (G39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316150	NM_173651.2(FSIP2):c.148G>A (p.Gly50Ser)	FSIP2, FSIP2-AS2 (G50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097231	NM_173651.2(FSIP2):c.149G>A (p.Gly50Asp)	FSIP2, FSIP2-AS2 (G50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097241	NM_173651.2(FSIP2):c.164T>C (p.Val55Ala)	FSIP2, FSIP2-AS2 (V55A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492902	NM_173651.4(FSIP2):c.-63A>C	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2298167	NM_173651.4(FSIP2):c.-60G>A	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2489633	NM_173651.4(FSIP2):c.-44A>G	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2355411	NM_173651.4(FSIP2):c.-38G>A	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2493457	NM_173651.4(FSIP2):c.-32G>T	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3097275	NM_173651.4(FSIP2):c.-11C>T	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3039107	NM_173651.4(FSIP2):c.-4G>A	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	FSIP2-related disorder	GLikely benign
Select item 2513240	NM_173651.4(FSIP2):c.17G>A (p.Gly6Asp)	FSIP2, FSIP2-AS2 (G6D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3097282	NM_173651.4(FSIP2):c.86A>G (p.Gln29Arg)	FSIP2, FSIP2-AS2 +1 more (Q29R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483276	NM_173651.4(FSIP2):c.91T>C (p.Cys31Arg)	FSIP2, FSIP2-AS2 +1 more (C31R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3057992	NM_173651.4(FSIP2):c.99C>T (p.Asp33=)	FSIP2, FSIP2-AS2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	FSIP2-related disorder	GLikely benign
Select item 2409002	NM_173651.4(FSIP2):c.131G>A (p.Gly44Glu)	FSIP2, FSIP2-AS2 (G44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879511	NM_173651.4(FSIP2):c.171G>T (p.Leu57=)	FSIP2, FSIP2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280095	NM_173651.4(FSIP2):c.193G>A (p.Ala65Thr)	FSIP2, FSIP2-AS2 (A65T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1176749	NM_173651.4(FSIP2):c.272G>A (p.Arg91Gln)	FSIP2 (R91Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050642	NM_173651.4(FSIP2):c.277T>C (p.Leu93=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 3042041	NM_173651.4(FSIP2):c.417G>A (p.Lys139=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 2211885	NM_173651.4(FSIP2):c.577A>C (p.Thr193Pro)	FSIP2 (T193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097315	NM_173651.4(FSIP2):c.586A>G (p.Ile196Val)	FSIP2 (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097319	NM_173651.4(FSIP2):c.602G>A (p.Arg201Gln)	FSIP2 (R201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280051	NM_173651.4(FSIP2):c.658C>T (p.Arg220Cys)	FSIP2 (R220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050090	NM_173651.4(FSIP2):c.707G>A (p.Arg236Gln)	FSIP2 (R236Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2208972	NM_173651.4(FSIP2):c.710A>G (p.Gln237Arg)	FSIP2 (Q237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056516	NM_173651.4(FSIP2):c.712C>T (p.Arg238Trp)	FSIP2 (R238W)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097325	NM_173651.4(FSIP2):c.713G>A (p.Arg238Gln)	FSIP2 (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033838	NM_173651.4(FSIP2):c.717A>G (p.Glu239=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2325449	NM_173651.4(FSIP2):c.719A>C (p.His240Pro)	FSIP2 (H240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363740	NM_173651.4(FSIP2):c.742C>T (p.Arg248Cys)	FSIP2 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097203	NM_173651.4(FSIP2):c.743G>T (p.Arg248Leu)	FSIP2 (R248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346319	NM_173651.4(FSIP2):c.803A>T (p.Glu268Val)	FSIP2 (E268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097207	NM_173651.4(FSIP2):c.812A>C (p.Lys271Thr)	FSIP2 (K271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 586972	NM_173651.4(FSIP2):c.910del (p.Gln304fs)	FSIP2 (Q304fs)	Deletion (frameshift variant)	Spermatogenic failure 34	GPathogenic
Select item 3039528	NM_173651.4(FSIP2):c.916A>G (p.Met306Val)	FSIP2 (M306V)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 2254820	NM_173651.4(FSIP2):c.946A>G (p.Ile316Val)	FSIP2 (I316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709916	NM_173651.4(FSIP2):c.1041_1050del (p.Val346_Tyr347insTer)	FSIP2	Deletion (nonsense)	Spermatogenic failure 34	GLikely pathogenic
Select item 2651742	NM_173651.4(FSIP2):c.1045G>A (p.Ala349Thr)	FSIP2 (A349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034749	NM_173651.4(FSIP2):c.1069G>C (p.Glu357Gln)	FSIP2 (E357Q)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3097224	NM_173651.4(FSIP2):c.1075C>G (p.His359Asp)	FSIP2 (H359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148325	GRCh38/hg38 2q32.1(chr2:185760952-186336114)x1	FSIP2, FSIP2-AS1 +2 more	Copy number loss	See cases	GLikely benign
Select item 3055476	NM_173651.4(FSIP2):c.1131G>A (p.Thr377=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 3059608	NM_173651.4(FSIP2):c.1134A>G (p.Lys378=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 2239581	NM_173651.4(FSIP2):c.1150G>T (p.Val384Phe)	FSIP2 (V384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050324	NM_173651.4(FSIP2):c.1195-8C>T	FSIP2	Single nucleotide variant (intron variant)	FSIP2-related disorder	GLikely benign
Select item 3049892	NM_173651.4(FSIP2):c.1217A>C (p.Asn406Thr)	FSIP2 (N406T)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 3034829	NM_173651.4(FSIP2):c.1217A>T (p.Asn406Ile)	FSIP2 (N406I)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GLikely benign
Select item 2275639	NM_173651.4(FSIP2):c.1247T>C (p.Ile416Thr)	FSIP2 (I416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059353	NM_173651.4(FSIP2):c.1274T>C (p.Ile425Thr)	FSIP2 (I425T)	Single nucleotide variant (missense variant)	FSIP2-related disorder	GBenign
Select item 3052408	NM_173651.4(FSIP2):c.1348-8T>C	FSIP2	Single nucleotide variant (intron variant)	FSIP2-related disorder	GLikely benign
Select item 3097239	NM_173651.4(FSIP2):c.1361C>T (p.Ala454Val)	FSIP2 (A454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039858	NM_173651.4(FSIP2):c.1374A>G (p.Gly458=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 2563315	NM_173651.4(FSIP2):c.1405G>A (p.Glu469Lys)	FSIP2 (E469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280062	NM_173651.4(FSIP2):c.1418A>T (p.Gln473Leu)	FSIP2 (Q473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253013	NM_173651.4(FSIP2):c.1419G>C (p.Gln473His)	FSIP2 (Q473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047623	NM_173651.4(FSIP2):c.1437G>A (p.Pro479=)	FSIP2	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GLikely benign
Select item 1176750	NM_173651.4(FSIP2):c.1453C>T (p.Pro485Ser)	FSIP2 (P485S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 586970	NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs)	FSIP2, FSIP2-AS1 (K536fs)	Indel (frameshift variant)	Spermatogenic failure 34	GPathogenic
Select item 2527793	NM_173651.4(FSIP2):c.1625C>T (p.Thr542Ile)	FSIP2, FSIP2-AS1 (T542I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176751	NM_173651.4(FSIP2):c.1628A>T (p.Tyr543Phe)	FSIP2, FSIP2-AS1 (Y543F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510542	NM_173651.4(FSIP2):c.1633G>A (p.Val545Ile)	FSIP2, FSIP2-AS1 (V545I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3037631	NM_173651.4(FSIP2):c.1639G>A (p.Asp547Asn)	FSIP2, FSIP2-AS1 (D547N)	Single nucleotide variant (non-coding transcript variant +1 more)	FSIP2-related disorder	GLikely benign
Select item 2528896	NM_173651.4(FSIP2):c.1642G>C (p.Asp548His)	FSIP2, FSIP2-AS1 (D548H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1709917	NM_173651.4(FSIP2):c.1660_1662dup (p.Asp554_Ser555insAsp)	FSIP2, FSIP2-AS1	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3059073	NM_173651.4(FSIP2):c.1683G>A (p.Thr561=)	FSIP2, FSIP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FSIP2-related disorder	GBenign
Select item 3024569	NM_173651.4(FSIP2):c.1703A>T (p.Tyr568Phe)	FSIP2, FSIP2-AS1 (Y568F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3097263	NM_173651.4(FSIP2):c.1711T>C (p.Tyr571His)	FSIP2, FSIP2-AS1 (Y571H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488952	NM_173651.4(FSIP2):c.1724C>T (p.Thr575Ile)	FSIP2, FSIP2-AS1 (T575I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556160	NM_173651.4(FSIP2):c.1751G>T (p.Cys584Phe)	FSIP2, FSIP2-AS1 (C584F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2460158	NM_173651.4(FSIP2):c.1769C>T (p.Thr590Met)	FSIP2, FSIP2-AS1 (T590M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1675831	NM_173651.4(FSIP2):c.1770G>A (p.Thr590=)	FSIP2, FSIP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2343631	NM_173651.4(FSIP2):c.1775T>C (p.Val592Ala)	FSIP2, FSIP2-AS1 (V592A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2614722	NM_173651.4(FSIP2):c.1786A>G (p.Thr596Ala)	FSIP2, FSIP2-AS1 (T596A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3097267	NM_173651.4(FSIP2):c.1792C>T (p.Pro598Ser)	FSIP2, FSIP2-AS1 (P598S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217606	NM_173651.4(FSIP2):c.1918C>T (p.Leu640Phe)	FSIP2, FSIP2-AS1 (L640F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097270	NM_173651.4(FSIP2):c.1948T>G (p.Leu650Val)	FSIP2, FSIP2-AS1 (L650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280058	NM_173651.4(FSIP2):c.1967G>T (p.Gly656Val)	FSIP2, FSIP2-AS1 (G656V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460819	NM_173651.4(FSIP2):c.2043A>C (p.Lys681Asn)	FSIP2, FSIP2-AS1 (K681N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493571	NM_173651.4(FSIP2):c.2045C>G (p.Ala682Gly)	FSIP2, FSIP2-AS1 (A682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391569	NM_173651.4(FSIP2):c.2052T>A (p.Asp684Glu)	FSIP2, FSIP2-AS1 (D684E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034979	NM_173651.4(FSIP2):c.2091A>G (p.Lys697=)	FSIP2, FSIP2-AS1	Single nucleotide variant (synonymous variant)	FSIP2-related disorder	GBenign
Select item 3097272	NM_173651.4(FSIP2):c.2174C>G (p.Ser725Cys)	FSIP2, FSIP2-AS1 (S725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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