DPYSL5[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 2582573	NM_020134.4(DPYSL5):c.-122G>T	DPYSL5	Single nucleotide variant (5 prime UTR variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 2581767	NM_020134.4(DPYSL5):c.-1C>T	DPYSL5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2276725	NM_020134.4(DPYSL5):c.22G>A (p.Val8Met)	DPYSL5 (V8M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650752	NM_020134.4(DPYSL5):c.27G>A (p.Arg9=)	DPYSL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275532	NM_020134.4(DPYSL5):c.58G>A (p.Asp20Asn)	DPYSL5 (D20N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3347513	NM_020134.4(DPYSL5):c.118C>G (p.Arg40Gly)	DPYSL5 (R40G)	Single nucleotide variant (missense variant)	DPYSL5-related disorder	GUncertain significance
Select item 1184280	NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)	DPYSL5 (E41K)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 2430396	NM_020134.4(DPYSL5):c.128T>A (p.Met43Lys)	DPYSL5 (M43K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632587	NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)	DPYSL5 (G47R)	Single nucleotide variant (missense variant)	Dandy-Walker syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2688970	NM_020134.4(DPYSL5):c.158C>G (p.Ala53Gly)	DPYSL5 (A53G)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 1690569	NM_020134.4(DPYSL5):c.169C>T (p.Leu57=)	DPYSL5	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 2672803	NM_020134.4(DPYSL5):c.231G>A (p.Thr77=)	DPYSL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503809	NM_020134.4(DPYSL5):c.312C>A (p.Asp104Glu)	DPYSL5 (D104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441716	NM_020134.4(DPYSL5):c.323C>T (p.Ser108Phe)	DPYSL5 (S108F)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 3362820	NM_020134.4(DPYSL5):c.332A>C (p.Asp111Ala)	DPYSL5 (D111A)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GLikely pathogenic
Select item 2366810	NM_020134.4(DPYSL5):c.334G>A (p.Ala112Thr)	DPYSL5 (A112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3273720	NM_020134.4(DPYSL5):c.347G>C (p.Cys116Ser)	DPYSL5 (C116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326763	NM_020134.4(DPYSL5):c.349C>T (p.Arg117Ter)	DPYSL5 (R117*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3339381	NM_020134.4(DPYSL5):c.366del (p.Lys123fs)	DPYSL5 (K123fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3273722	NM_020134.4(DPYSL5):c.365C>G (p.Pro122Arg)	DPYSL5 (P122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085687	NM_020134.4(DPYSL5):c.368A>G (p.Lys123Arg)	DPYSL5 (K123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472732	NM_020134.4(DPYSL5):c.385G>A (p.Ala129Thr)	DPYSL5 (A129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431728	NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala)	DPYSL5 (V132A)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 3372811	NM_020134.4(DPYSL5):c.433A>T (p.Met145Leu)	DPYSL5 (M145L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347910	NM_020134.4(DPYSL5):c.445G>A (p.Val149Met)	DPYSL5 (V149M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261080	NM_020134.4(DPYSL5):c.527A>G (p.Gln176Arg)	DPYSL5 (Q176R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298040	NM_020134.4(DPYSL5):c.538G>A (p.Ala180Thr)	DPYSL5 (A180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356066	NM_020134.4(DPYSL5):c.568G>A (p.Val190Ile)	DPYSL5 (V190I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3029772	NM_020134.4(DPYSL5):c.586del (p.Glu196fs)	DPYSL5 (E196fs)	Deletion (frameshift variant)	DPYSL5-related disorder	GUncertain significance
Select item 2650753	NM_020134.4(DPYSL5):c.597C>T (p.Ala199=)	DPYSL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2429985	NM_020134.4(DPYSL5):c.600+2C>T	DPYSL5	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely benign
Select item 3382737	NM_020134.4(DPYSL5):c.625G>A (p.Gly209Arg)	DPYSL5 (G209R)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 3373357	NM_020134.4(DPYSL5):c.628A>T (p.Ile210Phe)	DPYSL5 (I210F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775705	NM_020134.4(DPYSL5):c.636C>T (p.Gly212=)	DPYSL5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024998	NM_020134.4(DPYSL5):c.646A>C (p.Ile216Leu)	DPYSL5 (I216L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2594190	NM_020134.4(DPYSL5):c.649G>A (p.Glu217Lys)	DPYSL5 (E217K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2681248	NM_020134.4(DPYSL5):c.652A>T (p.Ile218Phe)	DPYSL5 (I218F)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2352791	NM_020134.4(DPYSL5):c.652A>G (p.Ile218Val)	DPYSL5 (I218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085688	NM_020134.4(DPYSL5):c.691C>T (p.Arg231Cys)	DPYSL5 (R231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257726	NM_020134.4(DPYSL5):c.692G>A (p.Arg231His)	DPYSL5 (R231H)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 2636299	NM_020134.4(DPYSL5):c.707C>A (p.Ala236Glu)	DPYSL5 (A236E)	Single nucleotide variant (missense variant)	DPYSL5-related disorder	GUncertain significance
Select item 2335951	NM_020134.4(DPYSL5):c.711C>G (p.Asn237Lys)	DPYSL5 (N237K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273719	NM_020134.4(DPYSL5):c.715A>G (p.Thr239Ala)	DPYSL5 (T239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650754	NM_020134.4(DPYSL5):c.887C>T (p.Thr296Met)	DPYSL5 (T296M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3373098	NM_020134.4(DPYSL5):c.901_906del (p.Arg301_Leu302del)	DPYSL5	Deletion	not provided	GUncertain significance
Select item 3356560	NM_020134.4(DPYSL5):c.911C>G (p.Thr304Ser)	DPYSL5 (T304S)	Single nucleotide variant (missense variant)	DPYSL5-related disorder	GUncertain significance
Select item 1704789	NM_020134.4(DPYSL5):c.936C>G (p.Ser312Arg)	DPYSL5 (S312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372466	NM_020134.4(DPYSL5):c.947+3A>G	DPYSL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 771694	NM_020134.4(DPYSL5):c.947+8G>A	DPYSL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085689	NM_020134.4(DPYSL5):c.961A>G (p.Ile321Val)	DPYSL5 (I321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2574471	NM_020134.4(DPYSL5):c.974A>G (p.Asp325Gly)	DPYSL5 (D325G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366116	NM_020134.4(DPYSL5):c.1089+1G>T	DPYSL5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3233801	NM_020134.4(DPYSL5):c.1123G>A (p.Ala375Thr)	DPYSL5 (A375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068160	NM_020134.4(DPYSL5):c.1139A>G (p.Asn380Ser)	DPYSL5 (N380S)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 3025204	NM_020134.4(DPYSL5):c.1168C>T (p.Arg390Cys)	DPYSL5 (R390C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527553	NM_020134.4(DPYSL5):c.1177C>T (p.Arg393Cys)	DPYSL5 (R393C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3351743	NM_020134.4(DPYSL5):c.1178G>A (p.Arg393His)	DPYSL5 (R393H)	Single nucleotide variant (missense variant)	DPYSL5-related disorder	GUncertain significance
Select item 3273721	NM_020134.4(DPYSL5):c.1270T>A (p.Phe424Ile)	DPYSL5 (F424I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252633	NM_020134.4(DPYSL5):c.1348G>A (p.Gly450Ser)	DPYSL5 (G450S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662908	NM_020134.4(DPYSL5):c.1388C>T (p.Pro463Leu)	DPYSL5 (P463L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371329	NM_020134.4(DPYSL5):c.1440G>T (p.Lys480Asn)	DPYSL5 (K480N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251761	NM_020134.4(DPYSL5):c.1450G>A (p.Val484Ile)	DPYSL5 (V484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363610	NM_020134.4(DPYSL5):c.1480G>A (p.Gly494Arg)	DPYSL5 (G494R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3085685	NM_020134.4(DPYSL5):c.1501C>T (p.His501Tyr)	DPYSL5 (H501Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675770	NM_020134.4(DPYSL5):c.1516G>C (p.Glu506Gln)	DPYSL5 (E506Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253551	NM_020134.4(DPYSL5):c.1550G>C (p.Arg517Pro)	DPYSL5 (R517P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3085686	NM_020134.4(DPYSL5):c.1556T>C (p.Val519Ala)	DPYSL5 (V519A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3354022	NM_020134.4(DPYSL5):c.1618A>G (p.Ile540Val)	DPYSL5 (I540V)	Single nucleotide variant (missense variant)	DPYSL5-related disorder	GUncertain significance
Select item 1330429	NM_020134.4(DPYSL5):c.1669G>A (p.Gly557Arg)	DPYSL5 (G557R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364937	NM_020134.4(DPYSL5):c.1679C>A (p.Ser560Ter)	DPYSL5 (S560*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1527792	GRCh37/hg19 2p23.3(chr2:26592685-27262646)	CENPA, CIB4 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1330199	GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1	EMILIN1, AGBL5 +10 more	Copy number loss	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
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 3361215	NM_020134.4(DPYSL5):c.265G>C (p.Ala89Pro)	DPYSL5 (A89P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361010	NM_020134.4(DPYSL5):c.655A>G (p.Ser219Gly)	DPYSL5 (S219G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 92