Related gene-specific medical variations for Gene (Select 9229) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082828	NM_004746.4(DLGAP1):c.82G>A (p.Asp28Asn)	DLGAP1, DLGAP1-AS3 (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082827	NM_004746.4(DLGAP1):c.560G>A (p.Arg187Gln)	DLGAP1, DLGAP1-AS3 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082821	NM_004746.4(DLGAP1):c.14C>T (p.Ser5Leu)	DLGAP1, DLGAP1-AS3 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054401	NM_004746.4(DLGAP1):c.406G>A (p.Gly136Ser)	DLGAP1, DLGAP1-AS3 (G136S)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GLikely benign
Select item 3053483	NM_004746.4(DLGAP1):c.57C>A (p.Ala19=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3051867	NM_004746.4(DLGAP1):c.421C>T (p.Leu141=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3038851	NM_004746.4(DLGAP1):c.345C>T (p.Arg115=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder	GLikely benign
Select item 3033733	NM_004746.4(DLGAP1):c.860G>A (p.Arg287Gln)	DLGAP1, DLGAP1-AS3 (R287Q)	Single nucleotide variant (missense variant)	DLGAP1-related disorder	GLikely benign
Select item 2648534	NM_004746.4(DLGAP1):c.567G>A (p.Ala189=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612014	NM_004746.4(DLGAP1):c.536G>A (p.Gly179Asp)	DLGAP1, DLGAP1-AS3 (G179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608774	NM_004746.4(DLGAP1):c.169T>C (p.Cys57Arg)	DLGAP1, DLGAP1-AS3 (C57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588285	NM_004746.4(DLGAP1):c.85C>T (p.Arg29Cys)	DLGAP1, DLGAP1-AS3 (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536351	NM_004746.4(DLGAP1):c.148C>T (p.Arg50Trp)	DLGAP1, DLGAP1-AS3 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515530	NM_004746.4(DLGAP1):c.533A>G (p.Tyr178Cys)	DLGAP1, DLGAP1-AS3 (Y178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510783	NM_004746.4(DLGAP1):c.353A>G (p.Tyr118Cys)	DLGAP1, DLGAP1-AS3 (Y118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429870	NM_004746.4(DLGAP1):c.733G>T (p.Glu245Ter)	DLGAP1-AS3, DLGAP1 (E245*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2381048	NM_004746.4(DLGAP1):c.518C>T (p.Ala173Val)	DLGAP1, DLGAP1-AS3 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376758	NM_004746.4(DLGAP1):c.905C>T (p.Ala302Val)	DLGAP1, DLGAP1-AS3 (A302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326728	NM_004746.4(DLGAP1):c.315C>G (p.Asp105Glu)	DLGAP1, DLGAP1-AS3 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314297	NM_004746.4(DLGAP1):c.418C>G (p.His140Asp)	DLGAP1, DLGAP1-AS3 (H140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301491	NM_004746.4(DLGAP1):c.656C>T (p.Ser219Leu)	DLGAP1, DLGAP1-AS3 (S219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293221	NM_004746.4(DLGAP1):c.628G>A (p.Gly210Ser)	DLGAP1, DLGAP1-AS3 (G210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276144	NM_004746.4(DLGAP1):c.781A>G (p.Thr261Ala)	DLGAP1, DLGAP1-AS3 (T261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807893	GRCh37/hg19 18p11.31(chr18:4112815-4195858)x1	DLGAP1	Copy number loss	not provided	GUncertain significance
Select item 1340234	GRCh37/hg19 18p11.31(chr18:4396034-4551824)x1	DLGAP1	Copy number loss	not provided	GUncertain significance
Select item 997078	GRCh37/hg19 18p11.31(chr18:3635929-3890654)	DLGAP1	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 979523	GRCh37/hg19 18p11.31(chr18:3764088-4965562)x3	DLGAP1	Copy number gain	not provided	GUncertain significance
Select item 777265	NM_004746.4(DLGAP1):c.888G>A (p.Ser296=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771503	NM_004746.4(DLGAP1):c.852C>A (p.Thr284=)	DLGAP1, DLGAP1-AS3	Single nucleotide variant (synonymous variant)	DLGAP1-related disorder +1 more	GBenign
Select item 688421	GRCh37/hg19 18p11.31(chr18:3743976-3846248)x3	DLGAP1	Copy number gain	not provided	GUncertain significance
Select item 687653	GRCh37/hg19 18p11.31(chr18:3500601-3540968)x3	DLGAP1	Copy number gain	not provided	GUncertain significance
Select item 685938	GRCh37/hg19 18p11.31(chr18:4117583-4193497)x1	DLGAP1	Copy number loss	not provided	GUncertain significance
Select item 685823	GRCh37/hg19 18p11.31(chr18:3633721-3901635)x1	DLGAP1	Copy number loss	not provided	GUncertain significance
Select item 684973	GRCh37/hg19 18p11.31(chr18:3483639-3573365)x3	DLGAP1	Copy number gain	not provided	GUncertain significance
Select item 564504	GRCh37/hg19 18p11.31(chr18:4166297-4467751)x3	DLGAP1	Copy number gain	not provided	GLikely benign
Select item 564482	GRCh37/hg19 18p11.31(chr18:4196265-4249393)x1	DLGAP1	Copy number loss	not provided	GLikely benign
Select item 443562	GRCh37/hg19 18p11.31(chr18:3645391-4170627)x3	DLGAP1	Copy number gain	See cases	GUncertain significance

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Items: 37