ClinVar for Gene (Select 1841) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3086153	NM_012145.4(DTYMK):c.593C>T (p.Ala198Val)	DTYMK (A237V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086152	NM_012145.4(DTYMK):c.427C>T (p.Arg143Trp)	DTYMK (R124W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086151	NM_012145.4(DTYMK):c.302C>G (p.Ser101Cys)	DTYMK (S101C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086150	NM_012145.4(DTYMK):c.183T>G (p.Ser61Arg)	DTYMK (S61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086149	NM_012145.4(DTYMK):c.145A>C (p.Ile49Leu)	DTYMK (I49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065236	NM_012145.4(DTYMK):c.239+1045_239+1050del	DTYMK	Deletion (inframe_deletion +1 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	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 2652117	NM_012145.4(DTYMK):c.513G>A (p.Thr171=)	DTYMK	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2614918	NM_012145.4(DTYMK):c.433G>A (p.Ala145Thr)	DTYMK (A145T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592942	NM_012145.4(DTYMK):c.85G>T (p.Ala29Ser)	DTYMK, LOC129936029 (A29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567925	NM_012145.4(DTYMK):c.37G>A (p.Gly13Ser)	DTYMK (G13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467037	NM_012145.4(DTYMK):c.5C>T (p.Ala2Val)	DTYMK (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2378846	NM_012145.4(DTYMK):c.11G>T (p.Arg4Leu)	DTYMK (R4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333559	NM_012145.4(DTYMK):c.592G>A (p.Ala198Thr)	DTYMK (A198T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2329017	NM_012145.4(DTYMK):c.364G>A (p.Val122Met)	DTYMK (V103M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272613	NM_012145.4(DTYMK):c.617C>T (p.Pro206Leu)	DTYMK (P163L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248268	NM_012145.4(DTYMK):c.8C>T (p.Ala3Val)	DTYMK (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239407	NM_012145.4(DTYMK):c.542C>T (p.Ser181Phe)	DTYMK (S157F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238549	NM_012145.4(DTYMK):c.52G>A (p.Gly18Arg)	DTYMK (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235855	NM_012145.4(DTYMK):c.475C>T (p.Arg159Trp)	DTYMK (R140W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216107	NM_012145.4(DTYMK):c.86C>G (p.Ala29Gly)	DTYMK, LOC129936029 (A29G)	Single nucleotide variant (missense variant +1 more)	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	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 1686905	NM_012145.4(DTYMK):c.242C>T (p.Pro81Leu)	DTYMK (P81L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 1686904	NM_012145.4(DTYMK):c.382G>A (p.Asp128Asn)	DTYMK (D128N +3 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 1686903	NM_012145.4(DTYMK):c.295G>A (p.Ala99Thr)	DTYMK (A99T +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	GPathogenic
Select item 1686902	NM_012145.4(DTYMK):c.287_320del (p.Asp96fs)	DTYMK (D135fs +1 more)	Deletion (frameshift variant +2 more)	Neurodegeneration, childhood-onset, with progressive microcephaly	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 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	DTYMK, DUSP28 +96 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	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 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	GPC1, GPR35 +24 more	Copy number loss	not provided	GUncertain significance
Select item 730030	NM_012145.4(DTYMK):c.103C>T (p.His35Tyr)	DTYMK, LOC129936029 (H35Y)	Single nucleotide variant (missense variant +1 more)	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)	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 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
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 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 +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 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	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

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