Related gene-specific medical variations for Gene (Select 9228) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272282	NM_001346810.2(DLGAP2):c.3056C>G (p.Ala1019Gly)	DLGAP2, LOC106783493 (A1019G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3272273	NM_001346810.2(DLGAP2):c.1627G>A (p.Val543Met)	DLGAP2, LOC126860276 (V543M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082831	NM_001346810.2(DLGAP2):c.1648G>C (p.Glu550Gln)	DLGAP2, LOC126860276 (E550Q)	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 3052857	NM_001346810.2(DLGAP2):c.3147C>G (p.Pro1049=)	DLGAP2, LOC106783493	Single nucleotide variant (synonymous variant)	DLGAP2-related disorder	GLikely benign
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 3043398	NM_001346810.2(DLGAP2):c.1810+10C>T	DLGAP2, LOC126860276	Single nucleotide variant (intron variant)	DLGAP2-related disorder	GLikely benign
Select item 3037262	NM_001346810.2(DLGAP2):c.3117G>A (p.Glu1039=)	DLGAP2, LOC106783493	Single nucleotide variant (synonymous variant)	DLGAP2-related disorder	GLikely benign
Select item 2685286	GRCh37/hg19 8p23.3(chr8:1500845-1638577)x1	DLGAP2	Copy number loss	not provided	GUncertain significance
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 2468496	NM_001346810.2(DLGAP2):c.3083G>A (p.Arg1028Gln)	DLGAP2, LOC106783493 (R1028Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2313453	NM_001346810.2(DLGAP2):c.1685C>T (p.Pro562Leu)	DLGAP2, LOC126860276 (P562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285546	NM_001346810.2(DLGAP2):c.3077C>T (p.Ala1026Val)	DLGAP2, LOC106783493 (A1026V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264484	NM_001346810.2(DLGAP2):c.3032T>A (p.Leu1011Gln)	DLGAP2, LOC106783493 (L1011Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210958	NM_001346810.2(DLGAP2):c.1775C>T (p.Pro592Leu)	DLGAP2, LOC126860276 (P592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807682	GRCh37/hg19 8p23.3(chr8:1152506-1659314)x3	DLGAP2	Copy number gain	not provided	GUncertain significance
Select item 1340982	GRCh37/hg19 8p23.3(chr8:1035548-1685064)x3	DLGAP2	Copy number gain	not provided	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
Select item 1221044	NM_001346810.2(DLGAP2):c.1810+14A>G	DLGAP2, LOC126860276	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 980864	GRCh37/hg19 8p23.3(chr8:1261398-1658501)x3	DLGAP2	Copy number gain	not provided	GLikely benign
Select item 686691	GRCh37/hg19 8p23.3(chr8:1319835-1659410)x3	DLGAP2	Copy number gain	not provided	GUncertain significance
Select item 563484	GRCh37/hg19 8p23.3(chr8:1358342-1710813)x3	DLGAP2	Copy number gain	not provided	GUncertain significance
Select item 395543	GRCh37/hg19 8p23.3(chr8:1536478-1610637)x1	DLGAP2	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 25