ClinVar for Gene (Select 1808) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358133	NM_001197293.3(DPYSL2):c.1509A>G (p.Lys503=)	DPYSL2	Single nucleotide variant (synonymous variant)	DPYSL2-related disorder	GLikely benign
Select item 3273707	NM_001197293.3(DPYSL2):c.560G>A (p.Gly187Glu)	DPYSL2 (G82E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273705	NM_001197293.3(DPYSL2):c.1727G>A (p.Arg576Gln)	DPYSL2 (R471Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236612	NM_001197293.3(DPYSL2):c.404C>T (p.Ser135Leu)	DPYSL2 (S135L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3085666	NM_001197293.3(DPYSL2):c.995G>A (p.Arg332Gln)	DPYSL2 (R227Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085665	NM_001197293.3(DPYSL2):c.921C>T (p.Gly307=)	DPYSL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3085664	NM_001197293.3(DPYSL2):c.697G>A (p.Asp233Asn)	DPYSL2 (D128N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085663	NM_001197293.3(DPYSL2):c.1895A>G (p.Gln632Arg)	DPYSL2 (Q527R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085662	NM_001197293.3(DPYSL2):c.1633C>T (p.Arg545Cys)	DPYSL2 (R404C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085660	NM_001197293.3(DPYSL2):c.1310C>G (p.Ala437Gly)	DPYSL2 (A332G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3054564	NM_001197293.3(DPYSL2):c.833G>A (p.Arg278His)	DPYSL2 (R137H +2 more)	Single nucleotide variant (missense variant)	DPYSL2-related disorder	GLikely benign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658497	NM_001197293.3(DPYSL2):c.1725C>G (p.Pro575=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658496	NM_001197293.3(DPYSL2):c.1612A>G (p.Ile538Val)	DPYSL2 (I397V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658495	NM_001197293.3(DPYSL2):c.588A>G (p.Gln196=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634050	NM_001197293.3(DPYSL2):c.1558G>A (p.Asp520Asn)	DPYSL2 (D379N +2 more)	Single nucleotide variant (missense variant)	DPYSL2-related disorder	GUncertain significance
Select item 2631158	NM_001197293.3(DPYSL2):c.272del (p.Gly91fs)	DPYSL2 (G91fs)	Deletion (frameshift variant)	DPYSL2-related disorder	GUncertain significance
Select item 2629498	NM_001197293.3(DPYSL2):c.922G>A (p.Asp308Asn)	DPYSL2 (D167N +2 more)	Single nucleotide variant (missense variant)	DPYSL2-related disorder	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2555817	NM_001197293.3(DPYSL2):c.886A>G (p.Ile296Val)	DPYSL2 (I191V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544111	NM_001197293.3(DPYSL2):c.1370C>T (p.Pro457Leu)	DPYSL2 (P352L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543885	NM_001197293.3(DPYSL2):c.1785G>T (p.Glu595Asp)	DPYSL2 (E490D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542350	NM_001197293.3(DPYSL2):c.1012G>A (p.Ala338Thr)	DPYSL2 (A197T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536685	NM_001197293.3(DPYSL2):c.776C>A (p.Ala259Glu)	DPYSL2 (A154E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527500	NM_001197293.3(DPYSL2):c.1190G>A (p.Ser397Asn)	DPYSL2 (S256N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520505	NM_001197293.3(DPYSL2):c.776C>T (p.Ala259Val)	DPYSL2 (A118V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2462890	NM_001197293.3(DPYSL2):c.1555C>T (p.Pro519Ser)	DPYSL2 (P414S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390075	NM_001197293.3(DPYSL2):c.1046A>G (p.Asn349Ser)	DPYSL2 (N208S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360331	NM_001197293.3(DPYSL2):c.1169C>T (p.Thr390Met)	DPYSL2 (T390M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317775	NM_001197293.3(DPYSL2):c.1342G>A (p.Val448Ile)	DPYSL2 (V448I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236823	NM_001197293.3(DPYSL2):c.1222A>G (p.Thr408Ala)	DPYSL2 (T267A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219973	NM_001197293.3(DPYSL2):c.1319C>T (p.Thr440Met)	DPYSL2 (T335M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 792304	NM_001197293.3(DPYSL2):c.1170G>C (p.Thr390=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777831	NM_001197293.3(DPYSL2):c.357C>T (p.Ser119=)	DPYSL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777419	NM_001197293.3(DPYSL2):c.1311C>G (p.Ala437=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776300	NM_001197293.3(DPYSL2):c.1563C>T (p.Ser521=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728007	NM_001197293.3(DPYSL2):c.504G>A (p.Arg168=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719806	NM_001197293.3(DPYSL2):c.1587A>C (p.Thr529=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718924	NM_001197293.3(DPYSL2):c.792C>T (p.His264=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716283	NM_001197293.3(DPYSL2):c.1980C>G (p.Thr660=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712013	NM_001197293.3(DPYSL2):c.1041C>T (p.Ile347=)	DPYSL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711497	NM_001197293.3(DPYSL2):c.1777-9G>A	DPYSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708360	NM_001197293.3(DPYSL2):c.667G>A (p.Ala223Thr)	DPYSL2 (A223T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563527	GRCh37/hg19 8p21.2(chr8:24948124-26895609)x1	PPP2R2A, DOCK5 +8 more	Copy number loss	not provided	GUncertain significance
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 225088	NM_001197293.3(DPYSL2):c.357C>A (p.Ser119Arg)	DPYSL2 (S119R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic

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