Related gene-specific medical variations for Gene (Select 100873930) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082775	NM_021120.4(DLG3):c.1360C>T (p.Arg454Trp)	DLG3, DLG3-AS1 (R117W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1735152	NM_021120.4(DLG3):c.1155C>T (p.Arg385=)	DLG3, DLG3-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1341535	NM_021120.4(DLG3):c.1280G>A (p.Arg427His)	DLG3, DLG3-AS1 (R427H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
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 1265795	NM_021120.4(DLG3):c.1303-162T>G	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257232	NM_021120.4(DLG3):c.1302+168T>C	DLG3, DLG3-AS1	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 1020621	NM_021120.4(DLG3):c.1405G>A (p.Glu469Lys)	DLG3, DLG3-AS1 (E132K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987145	NM_021120.4(DLG3):c.1369del (p.Gln457fs)	DLG3, DLG3-AS1 (Q120fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 625217	NM_021120.4(DLG3):c.1375_1378del (p.Val459fs)	DLG3, DLG3-AS1 (V459fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability	GPathogenic
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 434947	NM_021120.4(DLG3):c.1172A>G (p.Lys391Arg)	DLG3, DLG3-AS1 (K391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434946	NM_021120.4(DLG3):c.1281C>T (p.Arg427=)	DLG3, DLG3-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 420228	NM_021120.4(DLG3):c.1405+5G>C	DLG3, DLG3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 210850	NM_021120.4(DLG3):c.1405+5_1405+7del	DLG3, DLG3-AS1	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 210849	NM_021120.4(DLG3):c.1388C>T (p.Ala463Val)	DLG3, DLG3-AS1 (A463V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 210848	NM_021120.4(DLG3):c.1242C>T (p.Ile414=)	DLG3, DLG3-AS1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 29943	NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter)	DLG3-AS1, DLG3 (S458* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 90	GPathogenic
Select item 11519	NM_021120.4(DLG3):c.1302+1G>A	DLG3, DLG3-AS1	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 90	GPathogenic

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Links from Gene

Items: 21