ClinVar for Gene (Select 10494) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2652114	NM_014808.4(FARP2):c.3159G>A (p.Glu1053=)	FARP2, STK25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2612766	NM_001271977.2(STK25):c.154G>A (p.Asp52Asn)	STK25 (D52N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496410	NM_014808.4(FARP2):c.2854G>A (p.Val952Ile)	FARP2, STK25 (V952I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493045	NM_001271977.2(STK25):c.1230G>T (p.Glu410Asp)	STK25 (E336D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484415	NM_014808.4(FARP2):c.3070G>A (p.Ala1024Thr)	FARP2, STK25 (A1024T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480932	NM_001271977.2(STK25):c.976C>T (p.Arg326Trp)	STK25 (R326W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479846	NM_001271977.2(STK25):c.23C>T (p.Ala8Val)	STK25 (A8V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476805	NM_001271977.2(STK25):c.386A>G (p.Asp129Gly)	STK25 (D35G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475257	NM_001271977.2(STK25):c.953T>G (p.Ile318Ser)	STK25 (I224S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467973	NM_001271977.2(STK25):c.1087C>T (p.Arg363Trp)	STK25 (R286W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455987	NM_014808.4(FARP2):c.2956G>A (p.Ala986Thr)	FARP2, STK25 (A986T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2387473	NM_001271977.2(STK25):c.1277G>A (p.Arg426His)	STK25 (R426H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385933	NM_001271977.2(STK25):c.1276C>T (p.Arg426Cys)	STK25 (R332C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356558	NM_014808.4(FARP2):c.3097A>G (p.Ser1033Gly)	FARP2, STK25 (S1033G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329254	NM_014808.4(FARP2):c.2930G>A (p.Gly977Asp)	FARP2, STK25 (G977D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316074	NM_014808.4(FARP2):c.3044A>G (p.Glu1015Gly)	STK25, FARP2 (E1015G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307980	NM_014808.4(FARP2):c.2882A>G (p.Tyr961Cys)	STK25, FARP2 (Y961C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305151	NM_014808.4(FARP2):c.2968C>A (p.His990Asn)	STK25, FARP2 (H990N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304166	NM_001271977.2(STK25):c.764C>T (p.Pro255Leu)	STK25 (P161L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293193	NM_001271977.2(STK25):c.1093G>A (p.Val365Ile)	STK25 (V288I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283014	NM_001271977.2(STK25):c.301G>A (p.Gly101Ser)	STK25 (G7S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281163	NM_001271977.2(STK25):c.1034C>T (p.Pro345Leu)	STK25 (P268L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255795	NM_001271977.2(STK25):c.1021A>G (p.Ser341Gly)	STK25 (S267G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1808495	GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1	ATG4B, BOK +8 more	Copy number loss	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	CAPN10, COPS9 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	ACKR3, AGAP1 +59 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 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	GPC1-AS1, GPR35 +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	AGXT, ANKMY1 +53 more	Duplication	Hereditary spastic paraplegia 30 +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	KCNJ13, NGEF +97 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	ING5, PASK +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 814385	GRCh37/hg19 2q37.3(chr2:242340265-242783384)x1	THAP4, ATG4B +8 more	Copy number loss	not provided	GLikely pathogenic
Select item 814383	GRCh37/hg19 2q37.3(chr2:242177268-242478356)x1	FARP2, HDLBP +2 more	Copy number loss	not provided	GLikely pathogenic
Select item 814382	GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1	ANO7, THAP4 +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 814381	GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1	ING5, SEPTIN2 +15 more	Copy number loss	not provided	GLikely pathogenic
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	ANO7, AQP12A +24 more	Copy number loss	not provided	GUncertain significance
Select item 785028	NM_014808.4(FARP2):c.3027G>A (p.Glu1009=)	FARP2, STK25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 722356	NM_014808.4(FARP2):c.3138G>A (p.Glu1046=)	FARP2, STK25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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)	AGXT, ANKMY1 +44 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	AGXT, ANKMY1 +49 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	ACKR3, AGAP1 +57 more	Copy number loss	Chromosome 2q37 deletion syndrome	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 562613	GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1	SNED1, PASK +15 more	Copy number loss	not provided	GPathogenic
Select item 443896	GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 443585	GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3	ANO7, ATG4B +15 more	Copy number gain	See cases	GUncertain significance
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +75 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 +54 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442661	GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1	AGXT, ANKMY1 +36 more	Copy number loss	See cases	GPathogenic
Select item 442540	GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3	AGXT, ANKMY1 +35 more	Copy number gain	See cases	GLikely pathogenic
Select item 442498	GRCh37/hg19 2q37.3(chr2:242305098-242783384)x3	ATG4B, BOK +8 more	Copy number gain	See cases	GUncertain significance
Select item 442496	GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1	AGXT, ANKMY1 +35 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 +83 more	Copy number loss	See cases	GPathogenic
Select item 394636	GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1	ANO7, ATG4B +15 more	Copy number loss	See cases	GLikely pathogenic
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	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC129935961, LOC129935962 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	ACKR3, AGAP1 +325 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	AGXT, ANKMY1 +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

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