ClinVar for Gene (Select 285193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274073	NM_001370465.2(DUSP28):c.364C>T (p.Arg122Cys)	ANKMY1, DUSP28 +1 more (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274072	NM_001370465.2(DUSP28):c.356T>C (p.Met119Thr)	ANKMY1, DUSP28 +1 more (M119T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3274071	NM_001370465.2(DUSP28):c.178G>A (p.Ala60Thr)	ANKMY1, DUSP28 (A30V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274070	NM_001370465.2(DUSP28):c.464A>C (p.Glu155Ala)	DUSP28, LOC129935975 (E155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274069	NM_001370465.2(DUSP28):c.229G>A (p.Asp77Asn)	ANKMY1, DUSP28 (D77N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3086313	NM_001370465.2(DUSP28):c.488T>C (p.Leu163Pro)	DUSP28, LOC129935975 (L163P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086312	NM_001370465.2(DUSP28):c.448C>T (p.Leu150Phe)	DUSP28, LOC129935975 (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086311	NM_001370465.2(DUSP28):c.439T>G (p.Trp147Gly)	DUSP28, LOC129935975 (W147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086310	NM_001370465.2(DUSP28):c.406G>T (p.Ala136Ser)	DUSP28, LOC129935975 (A136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086309	NM_001370465.2(DUSP28):c.34G>A (p.Ala12Thr)	ANKMY1, DUSP28 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086307	NM_001370465.2(DUSP28):c.337G>C (p.Val113Leu)	ANKMY1, DUSP28 +1 more (V113L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086306	NM_001370465.2(DUSP28):c.214G>A (p.Asp72Asn)	ANKMY1, DUSP28 (S18L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086305	NM_001370465.2(DUSP28):c.122C>G (p.Ala41Gly)	ANKMY1, DUSP28 +1 more (A49P +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 2622502	NM_001370465.2(DUSP28):c.385G>C (p.Ala129Pro)	DUSP28, LOC106783501 (A129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613809	NM_001370465.2(DUSP28):c.341G>A (p.Cys114Tyr)	ANKMY1, DUSP28 +1 more (C114Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601963	NM_001370465.2(DUSP28):c.392A>G (p.Gln131Arg)	DUSP28, LOC106783501 (Q131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597829	NM_001370465.2(DUSP28):c.208G>A (p.Val70Met)	ANKMY1, DUSP28 (V70M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591111	NM_001370465.2(DUSP28):c.329C>T (p.Ser110Leu)	ANKMY1, DUSP28 +1 more (S110L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547639	NM_001370465.2(DUSP28):c.347C>T (p.Ala116Val)	ANKMY1, DUSP28 +1 more (A116V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547358	NM_001370465.2(DUSP28):c.70C>A (p.Pro24Thr)	ANKMY1, DUSP28 (P24T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2536054	NM_001370465.2(DUSP28):c.236T>C (p.Leu79Pro)	ANKMY1, DUSP28 (L79P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481177	NM_001370465.2(DUSP28):c.356T>A (p.Met119Lys)	ANKMY1, DUSP28 +1 more (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463718	NM_001370465.2(DUSP28):c.359G>C (p.Arg120Pro)	ANKMY1, DUSP28 +1 more (R120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455746	NM_001370465.2(DUSP28):c.482C>T (p.Ser161Phe)	DUSP28, LOC129935975 (S161F)	Single nucleotide variant (missense variant)	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 2395174	NM_001370465.2(DUSP28):c.163C>A (p.Gln55Lys)	ANKMY1, DUSP28 (C35F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386645	NM_001370465.2(DUSP28):c.38C>T (p.Ser13Leu)	ANKMY1, DUSP28 (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357469	NM_001370465.2(DUSP28):c.19G>A (p.Gly7Arg)	ANKMY1, DUSP28 (G7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316562	NM_001370465.2(DUSP28):c.53C>A (p.Pro18Gln)	ANKMY1, DUSP28 (P18Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2256133	NM_001370465.2(DUSP28):c.181C>T (p.Pro61Ser)	ANKMY1, DUSP28 (G29D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248131	NM_001370465.2(DUSP28):c.515T>C (p.Leu172Ser)	DUSP28, LOC129935975 (L172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230723	NM_001370465.2(DUSP28):c.460G>C (p.Glu154Gln)	DUSP28, LOC129935975 (E154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208451	NM_001370465.2(DUSP28):c.359G>A (p.Arg120Gln)	ANKMY1, DUSP28 +1 more (R120Q)	Single nucleotide variant (missense variant +1 more)	not specified	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	AQP12A, AGXT +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 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	AGXT, ANKMY1 +24 more	Copy number loss	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 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 +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 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 +82 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +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	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

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