ClinVar for MedGen (Select 477074) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242225	NM_021120.4(DLG3):c.57G>C (p.Leu19=)	DLG3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 3024274	NM_021120.4(DLG3):c.1972+1G>A	DLG3	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 2626899	NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)	DLG3 (Y39*)	Duplication (nonsense)	Intellectual disability, X-linked 90	GLikely pathogenic
Select item 2582622	NM_021120.4(DLG3):c.985+36C>G	DLG3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 2576624	NM_021120.4(DLG3):c.-8dup	DLG3	Duplication (5 prime UTR variant)	Intellectual disability, X-linked 90	GPathogenic
Select item 2440805	NM_021120.4(DLG3):c.209G>C (p.Arg70Pro)	DLG3 (R70P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 2440804	NM_021120.4(DLG3):c.593G>A (p.Arg198Gln)	DLG3 (R198Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 2440803	NM_021120.4(DLG3):c.293T>C (p.Leu98Pro)	DLG3 (L98P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 2429999	NM_021120.4(DLG3):c.1819+1del	DLG3	Deletion (splice donor variant +1 more)	Intellectual disability, X-linked 90	GLikely pathogenic
Select item 1805626	NM_021120.4(DLG3):c.575C>T (p.Ser192Leu)	DLG3 (S192L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 1805106	NM_021120.4(DLG3):c.127G>A (p.Gly43Arg)	DLG3 (G43R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
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 1334574	NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter)	DLG3 (Q146* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, X-linked 90	GLikely pathogenic
Select item 1334558	NM_021120.4(DLG3):c.2243T>C (p.Ile748Thr)	DLG3 (I297T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1319664	NM_021120.4(DLG3):c.2266C>T (p.Arg756Ter)	DLG3 (R305* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1299587	NM_021120.4(DLG3):c.251C>T (p.Pro84Leu)	DLG3 (P84L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	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 1028722	NM_021120.4(DLG3):c.5A>C (p.His2Pro)	DLG3 (H2P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90 +1 more	GUncertain significance
Select item 931628	NM_021120.4(DLG3):c.341G>C (p.Arg114Pro)	DLG3 (R114P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90 +1 more	GConflicting classifications of pathogenicity
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 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 434948	NM_021120.4(DLG3):c.1138T>C (p.Phe380Leu)	DLG3 (F380L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90 +1 more	GUncertain significance
Select item 264643	NM_021120.4(DLG3):c.1145+659T>G	DLG3 (S22A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 90	GUncertain significance
Select item 224095	NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)	DLG3 (R574Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90 +2 more	GConflicting classifications of pathogenicity
Select item 219178	NM_021120.4(DLG3):c.532G>T (p.Gly178Trp)	DLG3 (G178W)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 90	GUncertain significance
Select item 127194	NM_021120.4(DLG3):c.985+1G>C	DLG3	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 90	GPathogenic
Select item 127193	NM_021120.4(DLG3):c.357+1G>C	DLG3	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 90	GPathogenic
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 29942	NM_021120.4(DLG3):c.1092dup (p.Thr365fs)	DLG3 (T365fs)	Duplication (frameshift variant)	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
Select item 11518	NM_021120.4(DLG3):c.985+5G>A	DLG3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 90	GPathogenic

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Items: 31