DLGAP4[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3082866	NM_001365621.2(DLGAP4):c.86G>A (p.Arg29His)	DLGAP4 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216619	NM_001365621.2(DLGAP4):c.116C>T (p.Ala39Val)	DLGAP4 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082854	NM_001365621.2(DLGAP4):c.127G>A (p.Glu43Lys)	DLGAP4 (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408970	NM_001365621.2(DLGAP4):c.133C>T (p.Arg45Cys)	DLGAP4 (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236473	NM_001365621.2(DLGAP4):c.346C>T (p.Arg116Cys)	DLGAP4 (R116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362009	NM_001365621.2(DLGAP4):c.377G>A (p.Arg126His)	DLGAP4 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272286	NM_001365621.2(DLGAP4):c.382G>A (p.Glu128Lys)	DLGAP4 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272284	NM_001365621.2(DLGAP4):c.391G>A (p.Ala131Thr)	DLGAP4 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082864	NM_001365621.2(DLGAP4):c.482C>T (p.Ala161Val)	DLGAP4 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781497	NM_001365621.2(DLGAP4):c.493G>A (p.Gly165Ser)	DLGAP4 (G165S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346593	NM_001365621.2(DLGAP4):c.565A>G (p.Lys189Glu)	DLGAP4 (K189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269844	NM_001365621.2(DLGAP4):c.638G>A (p.Gly213Asp)	DLGAP4 (G213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082865	NM_001365621.2(DLGAP4):c.694C>T (p.Arg232Cys)	DLGAP4 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602110	NM_001365621.2(DLGAP4):c.695G>A (p.Arg232His)	DLGAP4 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790889	NM_001365621.2(DLGAP4):c.733G>A (p.Ala245Thr)	DLGAP4 (A245T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2281596	NM_001365621.2(DLGAP4):c.796G>A (p.Ala266Thr)	DLGAP4 (A266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204952	NM_001365621.2(DLGAP4):c.809C>T (p.Pro270Leu)	DLGAP4 (P270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751115	NM_001365621.2(DLGAP4):c.810G>C (p.Pro270=)	DLGAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747057	NM_001365621.2(DLGAP4):c.810G>A (p.Pro270=)	DLGAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2248569	NM_001365621.2(DLGAP4):c.844G>A (p.Val282Met)	DLGAP4 (V282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339992	NM_001365621.2(DLGAP4):c.909C>A (p.His303Gln)	DLGAP4 (H303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267910	NM_001365621.2(DLGAP4):c.1001T>C (p.Val334Ala)	DLGAP4 (V334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261371	NM_001365621.2(DLGAP4):c.1025G>A (p.Ser342Asn)	DLGAP4 (S342N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282450	NM_001365621.2(DLGAP4):c.1048G>C (p.Glu350Gln)	DLGAP4 (E350Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401942	NM_001365621.2(DLGAP4):c.1054G>A (p.Asp352Asn)	DLGAP4 (D352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082852	NM_001365621.2(DLGAP4):c.1100G>T (p.Gly367Val)	DLGAP4 (G367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082853	NM_001365621.2(DLGAP4):c.1246C>A (p.Leu416Met)	DLGAP4 (L416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082855	NM_001365621.2(DLGAP4):c.1318G>A (p.Val440Ile)	DLGAP4 (V440I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082856	NM_001365621.2(DLGAP4):c.1321A>G (p.Ser441Gly)	DLGAP4 (S441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272289	NM_001365621.2(DLGAP4):c.1381C>G (p.Pro461Ala)	DLGAP4 (P461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351530	NM_001365621.2(DLGAP4):c.1442C>T (p.Ala481Val)	DLGAP4 (A481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331328	NM_001365621.2(DLGAP4):c.1450G>A (p.Glu484Lys)	DLGAP4 (E484K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291902	NM_001365621.2(DLGAP4):c.1490C>T (p.Thr497Met)	DLGAP4 (T497M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082857	NM_001365621.2(DLGAP4):c.1580G>A (p.Ser527Asn)	DLGAP4 (S527N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728931	NM_001365621.2(DLGAP4):c.1618G>A (p.Gly540Ser)	DLGAP4 (G540S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2377465	NM_001365621.2(DLGAP4):c.1715C>T (p.Pro572Leu)	DLGAP4 (P33L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 736679	NM_001365621.2(DLGAP4):c.1821C>T (p.Asn607=)	DLGAP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3082858	NM_001365621.2(DLGAP4):c.1842C>G (p.Ser614Arg)	DLGAP4 (S614R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082859	NM_001365621.2(DLGAP4):c.1844G>A (p.Ser615Asn)	DLGAP4 (S76N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238431	NM_001365621.2(DLGAP4):c.1853C>T (p.Pro618Leu)	DLGAP4 (P618L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082860	NM_001365621.2(DLGAP4):c.1879G>A (p.Ala627Thr)	DLGAP4 (A88T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3272290	NM_001365621.2(DLGAP4):c.1921G>C (p.Ala641Pro)	DLGAP4 (A102P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2318168	NM_001365621.2(DLGAP4):c.1961C>T (p.Ser654Phe)	DLGAP4 (S115F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 740829	NM_001365621.2(DLGAP4):c.1986G>A (p.Arg662=)	DLGAP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3272287	NM_001365621.2(DLGAP4):c.2107G>A (p.Val703Ile)	DLGAP4 (V164I +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3272288	NM_001365621.2(DLGAP4):c.2123T>C (p.Met708Thr)	DLGAP4 (M166T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272283	NM_001365621.2(DLGAP4):c.2158G>A (p.Asp720Asn)	DLGAP4 (D720N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606226	NM_001365621.2(DLGAP4):c.2177G>A (p.Cys726Tyr)	DLGAP4 (C184Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082861	NM_001365621.2(DLGAP4):c.2201C>T (p.Pro734Leu)	DLGAP4 (P192L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223288	NM_001365621.2(DLGAP4):c.2248C>T (p.Arg750Trp)	DLGAP4 (R208W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082862	NM_001365621.2(DLGAP4):c.2279G>A (p.Arg760His)	DLGAP4 (R218H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296495	NM_001365621.2(DLGAP4):c.2282A>G (p.Asn761Ser)	DLGAP4 (N219S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350155	NM_001365621.2(DLGAP4):c.2327C>T (p.Ser776Leu)	DLGAP4 (S234L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246376	NM_001365621.2(DLGAP4):c.2344C>T (p.Pro782Ser)	DLGAP4 (P240S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493395	NM_001365621.2(DLGAP4):c.2371C>T (p.Pro791Ser)	DLGAP4 (P788S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456106	NM_001365621.2(DLGAP4):c.2405G>A (p.Arg802Gln)	DLGAP4 (R263Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769088	NM_001365621.2(DLGAP4):c.2535T>C (p.Ala845=)	DLGAP4, DLGAP4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082863	NM_001365621.2(DLGAP4):c.2749G>C (p.Glu917Gln)	DLGAP4, DLGAP4-AS1 (E210Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753648	NM_001365621.2(DLGAP4):c.2778C>T (p.Pro926=)	DLGAP4, DLGAP4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225813	NM_001365621.2(DLGAP4):c.2779C>A (p.Pro927Thr)	DLGAP4-AS1, DLGAP4 (P233T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524571	NM_001365621.2(DLGAP4):c.2783C>T (p.Pro928Leu)	DLGAP4, DLGAP4-AS1 (P234L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540047	NM_001365621.2(DLGAP4):c.2785G>T (p.Val929Phe)	DLGAP4, DLGAP4-AS1 (V929F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652299	NM_001365621.2(DLGAP4):c.2814G>A (p.Pro938=)	DLGAP4, DLGAP4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207694	NM_001365621.2(DLGAP4):c.2824C>T (p.Arg942Cys)	DLGAP4, DLGAP4-AS1 (R235C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470017	NM_001365621.2(DLGAP4):c.2833G>A (p.Ala945Thr)	DLGAP4, DLGAP4-AS1 (A238T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684905	GRCh37/hg19 20q11.23(chr20:34795376-35025530)x3	AAR2, DLGAP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 75