ClinVar for Gene (Select 23192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321261	NM_013325.5(ATG4B):c.763G>A (p.Val255Ile)	ATG4B (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321251	NM_013325.5(ATG4B):c.916T>G (p.Cys306Gly)	ATG4B (C306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321240	NM_013325.5(ATG4B):c.124A>T (p.Ile42Phe)	ATG4B (I42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321229	NM_013325.5(ATG4B):c.919C>T (p.Arg307Cys)	ATG4B (R307C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	MLPH, MTERF4 +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 3130994	NM_013325.5(ATG4B):c.76G>A (p.Val26Ile)	ATG4B (V26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130993	NM_013325.5(ATG4B):c.59C>G (p.Pro20Arg)	ATG4B (P20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130992	NM_013325.5(ATG4B):c.583T>G (p.Phe195Val)	ATG4B (F195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130991	NM_013325.5(ATG4B):c.563C>T (p.Pro188Leu)	ATG4B (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130990	NM_013325.5(ATG4B):c.524T>G (p.Val175Gly)	ATG4B (V175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130989	NM_013325.5(ATG4B):c.330C>G (p.Ser110Arg)	ATG4B (S110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130988	NM_013325.5(ATG4B):c.274C>A (p.Leu92Ile)	ATG4B (L92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130987	NM_013325.5(ATG4B):c.185G>T (p.Gly62Val)	ATG4B (G62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062657	GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	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 2685891	GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3	ATG4B, D2HGDH +4 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 2652116	NM_013325.5(ATG4B):c.1017G>A (p.Leu339=)	ATG4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652115	NM_013325.5(ATG4B):c.539-8C>T	ATG4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2624168	NM_013325.5(ATG4B):c.647C>T (p.Pro216Leu)	ATG4B (P216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619731	NM_013325.5(ATG4B):c.121G>A (p.Glu41Lys)	ATG4B (E41K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617056	NM_013325.5(ATG4B):c.1121T>C (p.Val374Ala)	ATG4B (V374A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613395	NM_013325.5(ATG4B):c.319A>G (p.Ser107Gly)	ATG4B (S107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611067	NM_013325.5(ATG4B):c.601C>T (p.Arg201Trp)	ATG4B (R201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593086	NM_013325.5(ATG4B):c.338A>G (p.Asn113Ser)	ATG4B (N113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570487	NM_013325.5(ATG4B):c.952G>A (p.Ala318Thr)	ATG4B (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569078	NM_013325.5(ATG4B):c.898C>T (p.His300Tyr)	ATG4B (H300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559646	NM_013325.5(ATG4B):c.709G>A (p.Glu237Lys)	ATG4B (E237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553405	NM_013325.5(ATG4B):c.932C>T (p.Ala311Val)	ATG4B (A311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545702	NM_013325.5(ATG4B):c.230G>A (p.Arg77Gln)	ATG4B (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463021	NM_013325.5(ATG4B):c.623C>G (p.Ala208Gly)	ATG4B (A208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2387013	NM_013325.5(ATG4B):c.63G>C (p.Glu21Asp)	ATG4B (E21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384237	NM_013325.5(ATG4B):c.598G>A (p.Asp200Asn)	ATG4B (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383969	NM_013325.5(ATG4B):c.911C>T (p.Pro304Leu)	ATG4B (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377646	NM_013325.5(ATG4B):c.268C>T (p.Arg90Trp)	ATG4B (R90W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376946	NM_013325.5(ATG4B):c.641A>T (p.Asn214Ile)	ATG4B (N214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373094	NM_013325.5(ATG4B):c.607T>A (p.Cys203Ser)	ATG4B (C203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347677	NM_013325.5(ATG4B):c.35G>A (p.Arg12Gln)	ATG4B (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336517	NM_013325.5(ATG4B):c.683T>G (p.Leu228Arg)	ATG4B (L228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306546	NM_013325.5(ATG4B):c.124A>G (p.Ile42Val)	ATG4B (I42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275520	NM_013325.5(ATG4B):c.508A>G (p.Met170Val)	ATG4B (M170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261704	NM_013325.5(ATG4B):c.989A>T (p.Asn330Ile)	ATG4B (N330I)	Single nucleotide variant (missense variant)	not specified	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 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 1807573	GRCh37/hg19 2q37.3(chr2:242533423-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	OR6B3, PRR21 +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	RNPEPL1, SCLY +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	SNED1, THAP4 +53 more	Duplication	Neuropathy, hereditary sensory, type 2C +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 1340472	GRCh37/hg19 2q37.3(chr2:242580355-242783384)x1	ATG4B, D2HGDH +4 more	Copy number loss	not provided	GUncertain significance
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 980017	GRCh37/hg19 2q37.3(chr2:242471243-242760670)x3	DTYMK, ING5 +6 more	Copy number gain	not provided	GUncertain significance
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 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	MAB21L4, MTERF4 +24 more	Copy number loss	not provided	GUncertain significance
Select item 787165	NM_013325.5(ATG4B):c.112+5C>T	ATG4B	Single nucleotide variant (intron 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 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 +59 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 +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

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