DELE1[gene] - ClinVar

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Items: 67

	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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 3271486	NM_014773.5(DELE1):c.11T>C (p.Leu4Pro)	DELE1 (L4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081378	NM_014773.5(DELE1):c.14C>T (p.Pro5Leu)	DELE1 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081387	NM_014773.5(DELE1):c.37C>T (p.Pro13Ser)	DELE1 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081388	NM_014773.5(DELE1):c.40C>T (p.Arg14Cys)	DELE1 (R14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081398	NM_014773.5(DELE1):c.74C>G (p.Pro25Arg)	DELE1 (P25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081399	NM_014773.5(DELE1):c.80C>A (p.Ser27Tyr)	DELE1 (S27Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081375	NM_014773.5(DELE1):c.142G>A (p.Asp48Asn)	DELE1 (D48N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081380	NM_014773.5(DELE1):c.170C>T (p.Thr57Met)	DELE1 (T57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271482	NM_014773.5(DELE1):c.175G>A (p.Gly59Arg)	DELE1 (G59R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081381	NM_014773.5(DELE1):c.175G>T (p.Gly59Trp)	DELE1 (G59W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081382	NM_014773.5(DELE1):c.214T>C (p.Trp72Arg)	DELE1 (W72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081383	NM_014773.5(DELE1):c.295G>T (p.Ala99Ser)	DELE1 (A99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081384	NM_014773.5(DELE1):c.298A>G (p.Arg100Gly)	DELE1 (R100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081385	NM_014773.5(DELE1):c.368C>T (p.Pro123Leu)	DELE1 (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081386	NM_014773.5(DELE1):c.376C>T (p.Arg126Cys)	DELE1 (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081389	NM_014773.5(DELE1):c.418C>G (p.Arg140Gly)	DELE1 (R140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569304	NM_014773.5(DELE1):c.455C>T (p.Pro152Leu)	DELE1 (P152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081390	NM_014773.5(DELE1):c.482G>C (p.Arg161Thr)	DELE1 (R161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081391	NM_014773.5(DELE1):c.500C>G (p.Ala167Gly)	DELE1 (A167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081392	NM_014773.5(DELE1):c.503C>T (p.Ser168Leu)	DELE1 (S168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081393	NM_014773.5(DELE1):c.548G>A (p.Arg183His)	DELE1 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081394	NM_014773.5(DELE1):c.560C>T (p.Pro187Leu)	DELE1 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508188	NM_014773.5(DELE1):c.577G>A (p.Gly193Ser)	DELE1 (G193S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271483	NM_014773.5(DELE1):c.661C>G (p.Gln221Glu)	DELE1 (Q221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081396	NM_014773.5(DELE1):c.676A>T (p.Thr226Ser)	DELE1 (T226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081397	NM_014773.5(DELE1):c.694G>T (p.Ala232Ser)	DELE1 (A232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271485	NM_014773.5(DELE1):c.700A>G (p.Thr234Ala)	DELE1 (T234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613666	NM_014773.5(DELE1):c.820C>T (p.Arg274Cys)	DELE1 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081400	NM_014773.5(DELE1):c.823G>A (p.Gly275Ser)	DELE1 (G275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081401	NM_014773.5(DELE1):c.845A>G (p.Asn282Ser)	DELE1 (N282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601579	NM_014773.5(DELE1):c.848C>T (p.Ala283Val)	DELE1 (A283V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081402	NM_014773.5(DELE1):c.875G>A (p.Gly292Asp)	DELE1 (G292D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474158	NM_014773.5(DELE1):c.889A>G (p.Ile297Val)	DELE1 (I297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271481	NM_014773.5(DELE1):c.947A>T (p.Gln316Leu)	DELE1 (Q316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466486	NM_014773.5(DELE1):c.953G>A (p.Arg318His)	DELE1 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081365	NM_014773.5(DELE1):c.1013C>T (p.Ala338Val)	DELE1 (A338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081366	NM_014773.5(DELE1):c.1040A>C (p.Asp347Ala)	DELE1 (D347A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081367	NM_014773.5(DELE1):c.1067T>C (p.Phe356Ser)	DELE1 (F356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081368	NM_014773.5(DELE1):c.1097A>G (p.Tyr366Cys)	DELE1 (Y366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081369	NM_014773.5(DELE1):c.1171C>T (p.Leu391Phe)	DELE1 (L391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081370	NM_014773.5(DELE1):c.1249G>A (p.Ala417Thr)	DELE1 (A417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548033	NM_014773.5(DELE1):c.1268C>T (p.Ala423Val)	DELE1 (A423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081371	NM_014773.5(DELE1):c.1283G>A (p.Arg428Gln)	DELE1 (R428Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081372	NM_014773.5(DELE1):c.1315G>T (p.Gly439Trp)	DELE1 (G439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081373	NM_014773.5(DELE1):c.1324G>A (p.Asp442Asn)	DELE1 (D442N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460833	NM_014773.5(DELE1):c.1364C>G (p.Ser455Cys)	DELE1 (S455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081374	NM_014773.5(DELE1):c.1418C>G (p.Ser473Trp)	DELE1 (S473W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551851	NM_014773.5(DELE1):c.1423A>T (p.Thr475Ser)	DELE1 (T475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081376	NM_014773.5(DELE1):c.1438C>T (p.Leu480Phe)	DELE1 (L480F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081377	NM_014773.5(DELE1):c.1496C>T (p.Pro499Leu)	DELE1 (P499L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081379	NM_014773.5(DELE1):c.1505C>T (p.Pro502Leu)	DELE1 (P502L)	Single nucleotide variant (missense variant)	not specified	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 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +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: 67