FSIP2-AS2[gene] - ClinVar

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Items: 27

	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	ABI2, AGPS +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	LOC129935258, LOC129935259 +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	LOC129935413, LOC129935414 +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 2378983	NM_173651.2(FSIP2):c.34C>T (p.Pro12Ser)	FSIP2, FSIP2-AS2 (P12S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2373393	NM_173651.2(FSIP2):c.116G>T (p.Gly39Val)	FSIP2, FSIP2-AS2 (G39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316150	NM_173651.2(FSIP2):c.148G>A (p.Gly50Ser)	FSIP2, FSIP2-AS2 (G50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492902	NM_173651.4(FSIP2):c.-63A>C	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2298167	NM_173651.4(FSIP2):c.-60G>A	FSIP2-AS2, FSIP2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2489633	NM_173651.4(FSIP2):c.-44A>G	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2355411	NM_173651.4(FSIP2):c.-38G>A	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2493457	NM_173651.4(FSIP2):c.-32G>T	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3039107	NM_173651.4(FSIP2):c.-4G>A	FSIP2, FSIP2-AS2	Single nucleotide variant (5 prime UTR variant)	FSIP2-related condition	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 condition	GLikely benign
Select item 2409002	NM_173651.4(FSIP2):c.131G>A (p.Gly44Glu)	FSIP2, FSIP2-AS2 (G44E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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Items: 27