OSGEPL1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 774411	NM_022353.3(OSGEPL1):c.1133dup (p.Leu378fs)	ANKAR, OSGEPL1 (L179fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GLikely benign
Select item 3207147	NM_022353.3(OSGEPL1):c.1111C>G (p.Leu371Val)	ANKAR, OSGEPL1 (L371V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239676	NM_022353.3(OSGEPL1):c.1105G>C (p.Glu369Gln)	ANKAR, OSGEPL1 (E170Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207146	NM_022353.3(OSGEPL1):c.1003A>G (p.Arg335Gly)	ANKAR, OSGEPL1 (R188G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486142	NM_022353.3(OSGEPL1):c.982G>A (p.Ala328Thr)	ANKAR, OSGEPL1 (A328T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373494	NM_022353.3(OSGEPL1):c.970T>G (p.Ser324Ala)	ANKAR, OSGEPL1 (S125A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238228	NM_022353.3(OSGEPL1):c.908G>A (p.Arg303Gln)	ANKAR, OSGEPL1 (R104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600015	NM_022353.3(OSGEPL1):c.877A>G (p.Met293Val)	ANKAR, OSGEPL1 (M293V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490802	NM_022353.3(OSGEPL1):c.865G>A (p.Val289Ile)	ANKAR, OSGEPL1 (V142I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724337	NM_022353.3(OSGEPL1):c.681T>C (p.His227=)	ANKAR, OSGEPL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2278862	NM_022353.3(OSGEPL1):c.653C>A (p.Thr218Asn)	ANKAR, OSGEPL1 (T19N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1206187	NM_022353.3(OSGEPL1):c.575C>G (p.Ser192Cys)	ANKAR, OSGEPL1 (S192C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2487911	NM_022353.3(OSGEPL1):c.521A>C (p.His174Pro)	ANKAR, OSGEPL1 (H174P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275912	NM_022353.3(OSGEPL1):c.496T>A (p.Leu166Ile)	ANKAR, OSGEPL1 (L166I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259616	NM_022353.3(OSGEPL1):c.457C>T (p.Leu153Phe)	ANKAR, OSGEPL1 (L153F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207148	NM_022353.3(OSGEPL1):c.377T>C (p.Val126Ala)	ANKAR, OSGEPL1 (V126A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509585	NM_022353.3(OSGEPL1):c.376G>A (p.Val126Met)	ANKAR, OSGEPL1 (V126M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286149	NM_022353.3(OSGEPL1):c.311T>A (p.Val104Asp)	ANKAR, OSGEPL1 (V104D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354212	NM_022353.3(OSGEPL1):c.124A>T (p.Ile42Phe)	ANKAR, OSGEPL1 (I42F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 714135	NM_022353.3(OSGEPL1):c.79A>C (p.Asn27His)	ANKAR, OSGEPL1 (N27H)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2214385	NM_022353.3(OSGEPL1):c.38A>T (p.Lys13Ile)	ANKAR, OSGEPL1 (K13I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 48