ClinVar for Gene (Select 57140) - 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 2652092	NM_018226.6(RNPEPL1):c.2067G>A (p.Thr689=)	RNPEPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652091	NM_018226.6(RNPEPL1):c.724G>A (p.Glu242Lys)	RNPEPL1 (E242K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2619884	NM_018226.6(RNPEPL1):c.385G>A (p.Glu129Lys)	RNPEPL1 (E129K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614886	NM_018226.6(RNPEPL1):c.406G>T (p.Ala136Ser)	RNPEPL1 (A136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611654	NM_018226.6(RNPEPL1):c.1973A>G (p.Gln658Arg)	RNPEPL1 (Q658R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597160	NM_018226.6(RNPEPL1):c.485C>T (p.Pro162Leu)	RNPEPL1 (P162L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569933	NM_018226.6(RNPEPL1):c.1892G>A (p.Arg631His)	RNPEPL1 (R631H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558390	NM_018226.6(RNPEPL1):c.484C>T (p.Pro162Ser)	RNPEPL1 (P162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543125	NM_018226.6(RNPEPL1):c.320C>G (p.Ser107Cys)	RNPEPL1 (S107C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515100	NM_018226.6(RNPEPL1):c.286G>A (p.Ala96Thr)	LOC129935981, RNPEPL1 (A96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514622	NM_018226.6(RNPEPL1):c.1742A>T (p.Glu581Val)	RNPEPL1 (E581V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488540	NM_018226.6(RNPEPL1):c.2027G>A (p.Gly676Asp)	RNPEPL1 (G676D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478972	NM_018226.6(RNPEPL1):c.1522G>A (p.Glu508Lys)	RNPEPL1 (E508K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477431	NM_018226.6(RNPEPL1):c.1900A>C (p.Thr634Pro)	RNPEPL1 (T634P)	Single nucleotide variant (missense variant)	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 2396986	NM_018226.6(RNPEPL1):c.335G>A (p.Gly112Glu)	RNPEPL1 (G112E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390520	NM_018226.6(RNPEPL1):c.320C>T (p.Ser107Phe)	RNPEPL1 (S107F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388205	NM_018226.6(RNPEPL1):c.322G>T (p.Ala108Ser)	RNPEPL1 (A108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386788	NM_018226.6(RNPEPL1):c.911G>A (p.Arg304Gln)	RNPEPL1 (R304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385423	NM_018226.6(RNPEPL1):c.1382G>A (p.Arg461His)	RNPEPL1 (R461H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378053	NM_018226.6(RNPEPL1):c.332C>A (p.Pro111Gln)	RNPEPL1 (P111Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371162	NM_018226.6(RNPEPL1):c.677C>T (p.Ser226Leu)	RNPEPL1 (S226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364617	NM_018226.6(RNPEPL1):c.65C>T (p.Pro22Leu)	RNPEPL1 (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344621	NM_018226.6(RNPEPL1):c.106G>T (p.Ala36Ser)	LOC129935981, RNPEPL1 (A36S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343854	NM_018226.6(RNPEPL1):c.209C>A (p.Pro70His)	LOC129935981, RNPEPL1 (P70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320106	NM_018226.6(RNPEPL1):c.514A>G (p.Thr172Ala)	RNPEPL1 (T172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266502	NM_018226.6(RNPEPL1):c.1013C>T (p.Ser338Phe)	RNPEPL1 (S338F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266339	NM_018226.6(RNPEPL1):c.269T>G (p.Phe90Cys)	LOC129935981, RNPEPL1 (F90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264391	NM_018226.6(RNPEPL1):c.589G>A (p.Gly197Ser)	RNPEPL1 (G197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254093	NM_018226.6(RNPEPL1):c.1018A>G (p.Ile340Val)	RNPEPL1 (I340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253607	NM_018226.6(RNPEPL1):c.2064C>A (p.Ser688Arg)	RNPEPL1 (S688R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229603	NM_018226.6(RNPEPL1):c.1976G>A (p.Gly659Asp)	RNPEPL1 (G659D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222812	NM_018226.6(RNPEPL1):c.1832G>A (p.Arg611His)	RNPEPL1 (R611H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222107	NM_018226.6(RNPEPL1):c.367C>T (p.Pro123Ser)	RNPEPL1 (P123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216960	NM_018226.6(RNPEPL1):c.337C>T (p.Pro113Ser)	RNPEPL1 (P113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214619	NM_018226.6(RNPEPL1):c.707G>A (p.Arg236Gln)	RNPEPL1 (R236Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212574	NM_018226.6(RNPEPL1):c.706C>T (p.Arg236Trp)	RNPEPL1 (R236W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808889	GRCh37/hg19 2q37.3(chr2:241402844-241572457)x3	ANKMY1, CAPN10 +4 more	Copy number gain	not provided	GUncertain significance
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 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 929330	GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3	AGXT, ANKMY1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 816588	GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1	ACKR3, AGAP1 +37 more	Copy number loss	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	ANO7, AQP12A +24 more	Copy number loss	not provided	GUncertain significance
Select item 778054	NM_018226.6(RNPEPL1):c.1377A>G (p.Pro459=)	RNPEPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709658	NM_018226.6(RNPEPL1):c.789C>T (p.Ala263=)	RNPEPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 562662	GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1	GPC1, ACKR3 +33 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 443896	GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
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 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 441738	GRCh37/hg19 2q37.3(chr2:241315690-241645335)x3	ANKMY1, AQP12A +7 more	Copy number gain	See cases	GUncertain significance
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 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	AGXT, ANKMY1 +84 more	Deletion	Primary hyperoxaluria, type I	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	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic

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