"GeneDx"[submitter] AND "DLG3"[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 1278272	NC_000023.11:g.70444587G>T	DLG3	Single nucleotide variant	not provided	GBenign
Select item 1282172	NC_000023.11:g.70444654A>G	DLG3	Single nucleotide variant	not provided	GBenign
Select item 1275688	NC_000023.11:g.70444663T>A	DLG3	Single nucleotide variant	not provided	GBenign
Select item 3369294	NM_021120.4(DLG3):c.23G>A (p.Cys8Tyr)	DLG3 (C8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252795	NM_021120.4(DLG3):c.29G>A (p.Cys10Tyr)	DLG3 (C10Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806573	NM_021120.4(DLG3):c.65T>C (p.Leu22Pro)	DLG3 (L22P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577711	NM_021120.4(DLG3):c.100C>T (p.Gln34Ter)	DLG3 (Q34*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1302556	NM_021120.4(DLG3):c.124G>A (p.Gly42Ser)	DLG3 (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817679	NM_021120.4(DLG3):c.159del (p.Tyr54fs)	DLG3 (Y54fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 90 +1 more	GPathogenic/Likely pathogenic
Select item 2576930	NM_021120.4(DLG3):c.208C>T (p.Arg70Cys)	DLG3 (R70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213104	NM_021120.4(DLG3):c.248G>A (p.Gly83Glu)	DLG3 (G83E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90 +1 more	GUncertain significance
Select item 450398	NM_021120.4(DLG3):c.298G>A (p.Gly100Ser)	DLG3 (G100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277416	NM_021120.4(DLG3):c.358-300A>G	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371906	NM_021120.4(DLG3):c.389A>G (p.Glu130Gly)	DLG3 (E130G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364742	NM_021120.4(DLG3):c.436G>A (p.Ala146Thr)	DLG3 (A146T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710886	NM_021120.4(DLG3):c.448G>A (p.Asp150Asn)	DLG3 (D150N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328590	NM_021120.4(DLG3):c.592C>T (p.Arg198Trp)	DLG3 (R198W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521892	NM_021120.4(DLG3):c.631C>T (p.Arg211Ter)	DLG3 (R211*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1204036	NM_021120.4(DLG3):c.786G>C (p.Glu262Asp)	DLG3 (E262D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367303	NM_021120.4(DLG3):c.806A>T (p.Asp269Val)	DLG3 (D269V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197589	NM_021120.4(DLG3):c.821T>C (p.Ile274Thr)	DLG3 (I274T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342328	NM_021120.4(DLG3):c.829C>T (p.Arg277Trp)	DLG3 (R277W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245114	NM_021120.4(DLG3):c.840+26C>T	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272693	NM_021120.4(DLG3):c.840+157A>T	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430714	NM_021120.4(DLG3):c.842T>G (p.Val281Gly)	DLG3 (V281G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421716	NM_021120.4(DLG3):c.985+4C>T	DLG3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3368530	NM_021120.4(DLG3):c.1020T>G (p.His340Gln)	DLG3 (H340Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287265	NM_021120.4(DLG3):c.1145+586G>C	DLG3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2663092	NM_021120.4(DLG3):c.1145+662G>C	DLG3 (A23P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803396	NM_021120.4(DLG3):c.1145+662G>T	DLG3 (A23S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700389	NM_021120.4(DLG3):c.1145+665T>C	DLG3 (W24R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375792	NM_021120.4(DLG3):c.1145+697_1145+706del	DLG3 (L35fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2574437	NM_021120.4(DLG3):c.1145+710C>T	DLG3 (R39W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1271830	NM_021120.4(DLG3):c.1145+779T>C	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225363	NM_021120.4(DLG3):c.1146-23C>T	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309082	NM_021120.4(DLG3):c.1146-3C>A	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1803637	NM_021120.4(DLG3):c.1213G>T (p.Asp405Tyr)	DLG3, DLG3-AS1 (D405Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571773	NM_021120.4(DLG3):c.1291C>T (p.Arg431Trp)	DLG3, DLG3-AS1 (R431W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504038	NM_021120.4(DLG3):c.1302G>A (p.Ser434=)	DLG3, DLG3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1257232	NM_021120.4(DLG3):c.1302+168T>C	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265795	NM_021120.4(DLG3):c.1303-162T>G	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 210850	NM_021120.4(DLG3):c.1405+5_1405+7del	DLG3, DLG3-AS1	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 420228	NM_021120.4(DLG3):c.1405+5G>C	DLG3-AS1, DLG3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1291687	NM_021120.4(DLG3):c.1406-346A>T	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258037	NM_021120.4(DLG3):c.1406-277C>T	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312749	NM_021120.4(DLG3):c.1475G>A (p.Gly492Glu)	DLG3 (G155E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708902	NM_021120.4(DLG3):c.1478C>G (p.Ser493Cys)	DLG3 (S10C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302228	NM_021120.4(DLG3):c.1490G>A (p.Arg497Gln)	DLG3 (R14Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1712866	NM_021120.4(DLG3):c.1561C>T (p.Pro521Ser)	DLG3 (P184S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428799	NM_021120.4(DLG3):c.1562C>A (p.Pro521Gln)	DLG3 (P184Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450713	NM_021120.4(DLG3):c.1795G>A (p.Asp599Asn)	DLG3 (D599N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1265201	NM_021120.4(DLG3):c.1819+1424G>C	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237628	NM_021120.4(DLG3):c.1820-56C>T	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420256	NM_021120.4(DLG3):c.1829A>G (p.Glu610Gly)	DLG3 (E610G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422451	NM_021120.4(DLG3):c.1832A>G (p.Asp611Gly)	DLG3 (D611G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295052	NM_021120.4(DLG3):c.1870+27T>C	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267741	NM_021120.4(DLG3):c.1870+114_1870+117del	DLG3	Deletion (intron variant)	not provided	GBenign
Select item 3375803	NM_021120.4(DLG3):c.1916G>A (p.Arg639Gln)	DLG3 (R188Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1806531	NM_021120.4(DLG3):c.1946C>T (p.Pro649Leu)	DLG3 (P198L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365168	NM_021120.4(DLG3):c.1956T>A (p.Phe652Leu)	DLG3 (F201L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248160	NM_021120.4(DLG3):c.1973-152C>T	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218321	NM_021120.4(DLG3):c.1981C>T (p.Arg661Trp)	DLG3 (R210W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816966	NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter)	DLG3 (R679* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 3375583	NM_021120.4(DLG3):c.2129G>A (p.Arg710Gln)	DLG3 (R259Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290298	NM_021120.4(DLG3):c.2146-149C>G	DLG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572904	NM_021120.4(DLG3):c.2204_2206del (p.Gln735del)	DLG3 (Q284del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3370164	NM_021120.4(DLG3):c.2221A>G (p.Ile741Val)	DLG3 (I290V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684120	NM_021120.4(DLG3):c.2354T>C (p.Val785Ala)	DLG3 (V334A +2 more)	Single nucleotide variant (missense variant)	DLG3-related disorder +1 more	GUncertain significance
Select item 2444768	NM_021120.4(DLG3):c.2390T>C (p.Ile797Thr)	DLG3 (I346T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253891	GRCh37/hg19 Xq13.1(chrX:69645273-69674366)x3	GDPD2, DLG3	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3361739	NM_021120.4(DLG3):c.1654C>T (p.His552Tyr)	DLG3 (H215Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360780	NM_021120.4(DLG3):c.2451_2452del (p.Ter818LysextTer?)	DLG3	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3360268	NM_021120.4(DLG3):c.1856T>C (p.Val619Ala)	DLG3 (V168A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 92