Related gene-specific medical variations for Gene (Select 100507435) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272278	NM_001346810.2(DLGAP2):c.1340G>A (p.Ser447Asn)	DLGAP2, DLGAP2-AS1 (S447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082830	NM_001346810.2(DLGAP2):c.1407G>T (p.Lys469Asn)	DLGAP2, DLGAP2-AS1 (K469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050278	NM_001346810.2(DLGAP2):c.1231-10C>G	DLGAP2, DLGAP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DLGAP2-related disorder	GLikely benign
Select item 2658292	NM_001346810.2(DLGAP2):c.1413C>T (p.Ile471=)	DLGAP2, DLGAP2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337414	NM_001346810.2(DLGAP2):c.1415G>A (p.Gly472Glu)	DLGAP2, DLGAP2-AS1 (G472E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272088	NM_001346810.2(DLGAP2):c.1391C>A (p.Pro464Gln)	DLGAP2, DLGAP2-AS1 (P464Q)	Single nucleotide variant (missense variant)	not provided	GBenign

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