ORMDL1[gene] - ClinVar

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Items: 41

	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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 3206980	NM_016467.5(ORMDL1):c.437G>A (p.Arg146Gln)	ORMDL1 (R146Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3206979	NM_016467.5(ORMDL1):c.436C>T (p.Arg146Trp)	ORMDL1 (R146W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318668	NM_016467.5(ORMDL1):c.300G>T (p.Lys100Asn)	ORMDL1 (K100N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206978	NM_016467.5(ORMDL1):c.295C>T (p.Arg99Trp)	ORMDL1 (R99W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402220	NM_016467.5(ORMDL1):c.179T>C (p.Met60Thr)	ORMDL1 (M60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301461	NM_016467.5(ORMDL1):c.173T>C (p.Leu58Pro)	ORMDL1 (L58P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298071	NM_016467.5(ORMDL1):c.161T>C (p.Ile54Thr)	ORMDL1 (I54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255449	NM_016467.5(ORMDL1):c.88G>A (p.Val30Ile)	ORMDL1 (V30I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1253116	NC_000002.12:g.189783950A>G	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248274	NC_000002.12:g.189783978G>C	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292649	NC_000002.12:g.189783989C>A	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 369322	NC_000002.12:g.189784079G>T	ORMDL1, PMS1	Single nucleotide variant (intron variant)	Lynch syndrome +1 more	GBenign/Likely benign
Select item 1292217	NC_000002.12:g.189784312C>T	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 393963	GRCh37/hg19 2q32.2(chr2:190632763-190728606)x1	ORMDL1, PMS1	Copy number loss	See cases	GUncertain significance
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: 41