OLA1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
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 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2218989	NM_013341.5(OLA1):c.1145T>C (p.Ile382Thr)	OLA1 (I361T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522709	NM_013341.5(OLA1):c.1072T>A (p.Ser358Thr)	OLA1 (S200T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351267	NM_013341.5(OLA1):c.950G>A (p.Arg317His)	OLA1 (R159H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302249	NM_013341.5(OLA1):c.899T>A (p.Phe300Tyr)	OLA1 (F279Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304634	NM_013341.5(OLA1):c.866A>G (p.Gln289Arg)	OLA1 (Q289R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302254	NM_013341.5(OLA1):c.854C>A (p.Ala285Glu)	OLA1 (A127E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526826	NM_013341.5(OLA1):c.852A>C (p.Glu284Asp)	OLA1 (E263D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302253	NM_013341.5(OLA1):c.836G>A (p.Arg279Lys)	OLA1 (R258K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302252	NM_013341.5(OLA1):c.820T>A (p.Leu274Met)	OLA1 (L274M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302251	NM_013341.5(OLA1):c.819A>T (p.Glu273Asp)	OLA1 (E115D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161492	NM_013341.5(OLA1):c.787T>G (p.Phe263Val)	OLA1 (F105V +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3204181	NM_013341.5(OLA1):c.776T>C (p.Leu259Ser)	OLA1 (L259S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204180	NM_013341.5(OLA1):c.766C>T (p.Pro256Ser)	OLA1 (P98S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302250	NM_013341.5(OLA1):c.760T>C (p.Tyr254His)	OLA1 (Y254H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604593	NM_013341.5(OLA1):c.608A>G (p.Tyr203Cys)	OLA1 (Y203C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204179	NM_013341.5(OLA1):c.556A>C (p.Met186Leu)	OLA1 (M28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217938	NM_013341.5(OLA1):c.482G>A (p.Gly161Glu)	OLA1 (G161E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223393	NM_013341.5(OLA1):c.434T>C (p.Ile145Thr)	OLA1 (I145T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3204178	NM_013341.5(OLA1):c.366T>A (p.His122Gln)	OLA1 (H122Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304814	NM_013341.5(OLA1):c.301C>T (p.His101Tyr)	OLA1 (H101Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557128	NM_013341.5(OLA1):c.299C>T (p.Ala100Val)	OLA1 (A100V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239188	NM_013341.5(OLA1):c.199C>T (p.Pro67Ser)	OLA1 (P67S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 3302248	NM_013341.5(OLA1):c.74T>C (p.Ile25Thr)	OLA1 (I25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366071	NM_013341.5(OLA1):c.38C>T (p.Pro13Leu)	OLA1 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526935	GRCh37/hg19 2q31.1(chr2:174573334-175268147)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526934	GRCh37/hg19 2q31.1(chr2:174562039-175276727)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion 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 814346	GRCh37/hg19 2q31.1(chr2:174562000-175276727)x1	CIR1, OLA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 814344	GRCh37/hg19 2q31.1(chr2:173865202-175428639)x1	CDCA7, CIR1 +8 more	Copy number loss	not provided	GUncertain significance
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 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 443305	GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1	ATF2, ATP5MC3 +10 more	Copy number loss	See cases	GUncertain significance
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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58