Related gene-specific medical variations for Gene (Select 116987) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247550	NC_000002.11:g.(?_236617803)_(237032766_?)dup	AGAP1	Duplication	not provided	GUncertain significance
Select item 3247549	NC_000002.11:g.(?_236877086)_(237032766_?)dup	AGAP1	Duplication	not provided	GUncertain significance
Select item 3247548	NC_000002.11:g.(?_236403331)_(236626308_?)dup	AGAP1	Duplication	not provided	GUncertain significance
Select item 3247547	NC_000002.11:g.(?_236791969)_(236877287_?)del	AGAP1	Deletion	not provided	GUncertain significance
Select item 3062646	GRCh37/hg19 2q37.2(chr2:236869918-236918421)x1	AGAP1	Copy number loss	not specified	GUncertain significance
Select item 2843967	NM_001037131.3(AGAP1):c.169T>A (p.Phe57Ile)	AGAP1, LOC126806566 (F57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824143	NM_001037131.3(AGAP1):c.164-19G>C	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807572	NM_001037131.3(AGAP1):c.222+4A>G	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2799008	NM_001037131.3(AGAP1):c.176A>G (p.Asn59Ser)	AGAP1, LOC126806566 (N59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729080	NM_001037131.3(AGAP1):c.222+20C>T	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684975	GRCh37/hg19 2q37.2(chr2:236547496-236890713)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 2367052	NM_001037131.3(AGAP1):c.203C>T (p.Ser68Phe)	AGAP1, LOC126806566 (S68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320125	NM_001037131.3(AGAP1):c.218A>G (p.Lys73Arg)	AGAP1, LOC126806566 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193917	NM_001037131.3(AGAP1):c.171C>T (p.Phe57=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100182	NM_001037131.3(AGAP1):c.164-14C>T	AGAP1, LOC126806566	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078711	NM_001037131.3(AGAP1):c.164-11_164-9del	AGAP1, LOC126806566	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2040856	NM_001037131.3(AGAP1):c.209C>T (p.Pro70Leu)	AGAP1, LOC126806566 (P70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003469	NM_001037131.3(AGAP1):c.210G>A (p.Pro70=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1976317	NM_001037131.3(AGAP1):c.165T>C (p.Asp55=)	AGAP1, LOC126806566	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974346	NM_001037131.3(AGAP1):c.164-11C>G	LOC126806566, AGAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1340855	GRCh37/hg19 2q37.2(chr2:236795163-236936459)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 1340756	GRCh37/hg19 2q37.2(chr2:236531239-236709253)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 980015	GRCh37/hg19 2q37.2(chr2:236557056-236796319)x1	AGAP1	Copy number loss	not provided	GLikely benign
Select item 816589	GRCh37/hg19 2q37.2(chr2:236953369-237032135)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 816587	GRCh37/hg19 2q37.2(chr2:235990319-236407621)x3	AGAP1	Copy number gain	not provided	GLikely benign
Select item 689106	GRCh37/hg19 2q37.2(chr2:236471064-236703486)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 689088	GRCh37/hg19 2q37.2(chr2:236201133-236510465)x3	AGAP1	Copy number gain	not provided	GUncertain significance
Select item 688933	GRCh37/hg19 2q37.2(chr2:236726651-236801785)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 687862	GRCh37/hg19 2q37.2(chr2:236942392-237041677)x3	AGAP1	Copy number gain	not provided	GUncertain significance
Select item 687606	GRCh37/hg19 2q37.2(chr2:235992185-236431911)x3	AGAP1	Copy number gain	not provided	GUncertain significance
Select item 687439	GRCh37/hg19 2q37.2(chr2:236720524-236961699)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 687170	GRCh37/hg19 2q37.2(chr2:236878509-236950141)x3	AGAP1	Copy number gain	not provided	GUncertain significance
Select item 562484	GRCh37/hg19 2q37.2(chr2:236531239-236583133)x1	AGAP1	Copy number loss	not provided	GUncertain significance
Select item 548969	GRCh37/hg19 2q37.2(chr2:236023370-236430846)x3	AGAP1	Copy number gain	See cases	GUncertain significance
Select item 443141	GRCh37/hg19 2q37.2(chr2:236492041-236709975)x1	AGAP1	Copy number loss	See cases	GUncertain significance
Select item 395605	GRCh37/hg19 2q37.2(chr2:236115385-236420380)x3	AGAP1	Copy number gain	See cases	GBenign
Select item 394080	GRCh37/hg19 2q37.2(chr2:236514390-236603963)x3	AGAP1	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 37