ClinVar for Gene (Select 79919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359180	NC_000002.11:g.241816942_241835597del	AGXT, MAB21L4	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 3338442	GRCh37/hg19 2q37.3(chr2:241737061-241932645)x1	AGXT, KIF1A +1 more	Copy number loss	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3121839	NM_001085437.3(MAB21L4):c.929C>T (p.Ala310Val)	MAB21L4 (A161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121837	NM_001085437.3(MAB21L4):c.83G>A (p.Arg28Gln)	MAB21L4 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121836	NM_001085437.3(MAB21L4):c.817T>C (p.Ser273Pro)	MAB21L4 (S105P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121835	NM_001085437.3(MAB21L4):c.646G>A (p.Gly216Arg)	MAB21L4 (G48R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121834	NM_001085437.3(MAB21L4):c.188G>C (p.Arg63Pro)	MAB21L4 (R63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121833	NM_001085437.3(MAB21L4):c.1336G>A (p.Glu446Lys)	MAB21L4 (E278K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121832	NM_001085437.3(MAB21L4):c.1310A>G (p.Gln437Arg)	MAB21L4 (Q288R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121831	NM_001085437.3(MAB21L4):c.130C>T (p.Leu44Phe)	MAB21L4 (L44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121830	NM_001085437.3(MAB21L4):c.1047G>C (p.Gln349His)	MAB21L4 (Q181H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685889	GRCh37/hg19 2q37.3(chr2:241725909-241876217)x3	AGXT, KIF1A +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807911	GRCh37/hg19 2q37.3(chr2:241804802-242022653)x3	AGXT, MAB21L4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	AGXT, ANKMY1 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	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 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	ANKMY1, ATG4B +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340707	GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1	AGXT, ANKMY1 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	PASK, RAB17 +53 more	Copy number loss	not provided	GPathogenic
Select item 1340021	GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3	LOC100128563, MAB21L4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 929402	GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3	AGXT, ANO7 +19 more	Copy number gain	See cases	GUncertain significance
Select item 929352	GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3	AGXT, ANO7 +19 more	Copy number gain	See cases	GUncertain significance
Select item 929330	GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3	AGXT, ANKMY1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 830538	NC_000002.11:g.(?_241808273)_(242708241_?)del	AGXT, ANO7 +15 more	Deletion	not provided	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 814379	GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1	OR6B2, RNPEPL1 +35 more	Copy number loss	not provided	GPathogenic
Select item 814378	GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1	GAL3ST2, SNED1 +35 more	Copy number loss	not provided	GPathogenic
Select item 814374	GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3	ACKR3, AGXT +56 more	Copy number gain	not provided	GPathogenic
Select item 809210	GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1	GPC1, GPR35 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685294	GRCh37/hg19 2q37.3(chr2:241582582-242285265)x3	AGXT, ANO7 +10 more	Copy number gain	not provided	GUncertain significance
Select item 638101	GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1	AGXT, ANKMY1 +37 more	Copy number loss	See cases	GPathogenic
Select item 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	TWIST2, ANKMY1 +43 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562672	GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3	ACKR3, AGAP1 +65 more	Copy number gain	not provided	GPathogenic
Select item 562671	GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1	AQP12B, ASB1 +59 more	Copy number loss	not provided	GPathogenic
Select item 562659	GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1	GPC1, MAB21L4 +35 more	Copy number loss	not provided	GPathogenic
Select item 562657	GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1	AGXT, ANKMY1 +34 more	Copy number loss	not provided	GPathogenic
Select item 562656	GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1	AGXT, ANKMY1 +33 more	Copy number loss	not provided	GPathogenic
Select item 562621	GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1	STK25, D2HGDH +17 more	Copy number loss	not provided	GPathogenic
Select item 562608	GRCh37/hg19 2q37.3(chr2:241704379-242375813)x4	PPP1R7, MTERF4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562572	GRCh37/hg19 2q37.3(chr2:241694337-242035146)x3	MTERF4, AGXT +3 more	Copy number gain	not provided	GUncertain significance
Select item 562546	GRCh37/hg19 2q37.3(chr2:241697171-241913820)x3	AGXT, KIF1A +1 more	Copy number gain	not provided	GUncertain significance
Select item 443896	GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	See cases	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +74 more	Copy number loss	See cases	GPathogenic
Select item 443364	GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1	AGXT, ANKMY1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 443310	GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1	AGXT, ANKMY1 +53 more	Copy number loss	See cases	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 442661	GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442540	GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3	AGXT, ANKMY1 +34 more	Copy number gain	See cases	GLikely pathogenic
Select item 442496	GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1	AGXT, ANKMY1 +34 more	Copy number loss	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441642	GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1	AGXT, ANKMY1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 187820	GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3	D2HGDH, DTYMK +36 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic

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