DPYSL3[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 148987	GRCh38/hg38 5q32(chr5:146799840-147408423)x3	DPYSL3, LOC108660405 +7 more	Copy number gain	See cases	GLikely benign
Select item 2363579	NM_001197294.2(DPYSL3):c.2030G>A (p.Arg677His)	DPYSL3, STK32A (R563H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085669	NM_001197294.2(DPYSL3):c.1979A>C (p.Asp660Ala)	DPYSL3, STK32A (D546A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392587	NM_001197294.2(DPYSL3):c.1900C>T (p.Arg634Trp)	DPYSL3, STK32A (R520W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257053	NM_001197294.2(DPYSL3):c.1832G>T (p.Gly611Val)	DPYSL3, STK32A (G611V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293588	NM_001197294.2(DPYSL3):c.1822G>A (p.Val608Ile)	DPYSL3, STK32A (V494I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711933	NM_001197294.2(DPYSL3):c.1809A>C (p.Ala603=)	DPYSL3, STK32A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315656	NM_001197294.2(DPYSL3):c.1768G>A (p.Asp590Asn)	DPYSL3, STK32A (D590N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357605	NM_001197294.2(DPYSL3):c.1701G>T (p.Met567Ile)	DPYSL3, STK32A (M453I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776074	NM_001197294.2(DPYSL3):c.1551G>C (p.Val517=)	DPYSL3, STK32A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3085668	NM_001197294.2(DPYSL3):c.1535A>G (p.Lys512Arg)	DPYSL3, STK32A (K512R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241102	NM_001197294.2(DPYSL3):c.1441G>A (p.Asp481Asn)	DPYSL3, STK32A (D367N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085667	NM_001197294.2(DPYSL3):c.1369A>G (p.Ile457Val)	DPYSL3, STK32A (I457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777398	NM_001197294.2(DPYSL3):c.1311-10C>T	DPYSL3, STK32A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2555438	NM_001197294.2(DPYSL3):c.1297T>G (p.Ser433Ala)	DPYSL3, STK32A (S433A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254147	NM_001197294.2(DPYSL3):c.1067T>C (p.Ile356Thr)	DPYSL3 (I356T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316234	NM_001197294.2(DPYSL3):c.1061T>C (p.Ile354Thr)	DPYSL3 (I354T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786065	NM_001197294.2(DPYSL3):c.972C>G (p.Thr324=)	DPYSL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334856	NM_001197294.2(DPYSL3):c.913C>A (p.Leu305Met)	DPYSL3 (L191M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410477	NM_001197294.2(DPYSL3):c.902G>T (p.Cys301Phe)	DPYSL3 (C187F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525173	NM_001197294.2(DPYSL3):c.892A>G (p.Ile298Val)	DPYSL3 (I298V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552344	NM_001197294.2(DPYSL3):c.828C>G (p.Asn276Lys)	DPYSL3 (N276K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785145	NM_001197294.2(DPYSL3):c.820+8C>T	DPYSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3085672	NM_001197294.2(DPYSL3):c.760G>C (p.Asp254His)	DPYSL3 (D254H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085671	NM_001197294.2(DPYSL3):c.701A>G (p.Tyr234Cys)	DPYSL3 (Y120C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672156	NM_001197294.2(DPYSL3):c.655A>C (p.Ile219Leu)	DPYSL3 (I105L +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2655891	NM_001197294.2(DPYSL3):c.627G>A (p.Ala209=)	DPYSL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253293	NM_001197294.2(DPYSL3):c.515T>C (p.Ile172Thr)	DPYSL3 (I58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085670	NM_001197294.2(DPYSL3):c.440C>T (p.Ala147Val)	DPYSL3 (A33V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655892	NM_001197294.2(DPYSL3):c.382-28598C>A	DPYSL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2248397	NM_001197294.2(DPYSL3):c.56A>T (p.Tyr19Phe)	DPYSL3 (Y19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685175	GRCh37/hg19 5q32(chr5:146046054-147156861)x1	DPYSL3, JAKMIP2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688915	GRCh37/hg19 5q32(chr5:146169510-146808540)x3	DPYSL3, PPP2R2B +1 more	Copy number gain	not provided	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ATG12, ATOX1 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 48