Related gene-specific medical variations for Gene (Select 116986) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093737	NM_001122772.3(AGAP2):c.2834T>C (p.Ile945Thr)	AGAP2, AGAP2-AS1 (I945T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3093727	NM_001122772.3(AGAP2):c.2729T>C (p.Leu910Pro)	AGAP2, AGAP2-AS1 (L554P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093697	NM_001122772.3(AGAP2):c.1520G>T (p.Gly507Val)	AGAP2, LOC126861542 (G171V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093682	NM_014770.4(AGAP2):c.130A>G (p.Ser44Gly)	AGAP2, LOC130008146 (S44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093676	NM_001122772.3(AGAP2):c.1228G>A (p.Gly410Ser)	AGAP2, LOC126861542 (G410S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058699	NM_001122772.3(AGAP2):c.3288C>T (p.His1096=)	AGAP2, AGAP2-AS1	Single nucleotide variant (synonymous variant +1 more)	AGAP2-related disorder	GLikely benign
Select item 3042080	NM_001122772.3(AGAP2):c.1312G>C (p.Glu438Gln)	AGAP2, LOC126861542 (E102Q +1 more)	Single nucleotide variant (missense variant)	AGAP2-related disorder	GBenign
Select item 3040495	NM_001122772.3(AGAP2):c.1519G>A (p.Gly507Ser)	AGAP2, LOC126861542 (G171S +1 more)	Single nucleotide variant (missense variant)	AGAP2-related disorder	GLikely benign
Select item 3034164	NM_001122772.3(AGAP2):c.1337T>C (p.Met446Thr)	AGAP2, LOC126861542 (M110T +1 more)	Single nucleotide variant (missense variant)	AGAP2-related disorder	GLikely benign
Select item 2643150	NM_023017.1:c.157C>A	AGAP2, LOC130008146	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636980	NM_001122772.3(AGAP2):c.2642T>C (p.Val881Ala)	AGAP2, AGAP2-AS1 (V525A +1 more)	Single nucleotide variant (missense variant +1 more)	AGAP2-related disorder	GUncertain significance
Select item 2631452	NM_001122772.3(AGAP2):c.1384G>C (p.Gly462Arg)	AGAP2, LOC126861542 (G126R +1 more)	Single nucleotide variant (missense variant)	AGAP2-related disorder	GUncertain significance
Select item 2622479	NM_001122772.3(AGAP2):c.1314G>C (p.Glu438Asp)	AGAP2, LOC126861542 (E102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540332	NM_001122772.3(AGAP2):c.2822A>T (p.Lys941Met)	AGAP2, AGAP2-AS1 (K585M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533753	NM_001122772.3(AGAP2):c.3161T>C (p.Leu1054Pro)	AGAP2, AGAP2-AS1 (L1054P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518696	NM_001122772.3(AGAP2):c.3482C>T (p.Ala1161Val)	AGAP2, AGAP2-AS1 (A1161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483630	NM_001122772.3(AGAP2):c.1514G>A (p.Arg505Gln)	AGAP2, LOC126861542 (R505Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478420	NM_001122772.3(AGAP2):c.3140T>G (p.Leu1047Arg)	AGAP2, AGAP2-AS1 (L691R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385819	NM_001122772.3(AGAP2):c.3473C>G (p.Thr1158Arg)	AGAP2, AGAP2-AS1 (T802R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348245	NM_001122772.3(AGAP2):c.1520G>C (p.Gly507Ala)	AGAP2, LOC126861542 (G507A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339191	NM_001122772.3(AGAP2):c.3310G>A (p.Val1104Ile)	AGAP2, AGAP2-AS1 (V748I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309833	NM_001122772.3(AGAP2):c.2969A>T (p.Asp990Val)	AGAP2, AGAP2-AS1 (D990V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306358	NM_001122772.3(AGAP2):c.3198C>G (p.Asp1066Glu)	AGAP2, AGAP2-AS1 (D1066E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295929	NM_001122772.3(AGAP2):c.3308A>G (p.His1103Arg)	AGAP2, AGAP2-AS1 (H747R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288358	NM_001122772.3(AGAP2):c.3496A>G (p.Ser1166Gly)	AGAP2, AGAP2-AS1 (S810G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280072	NM_001122772.3(AGAP2):c.1477C>T (p.Leu493Phe)	AGAP2, LOC126861542 (L157F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249878	NM_001122772.3(AGAP2):c.3013G>T (p.Asp1005Tyr)	AGAP2, AGAP2-AS1 (D1005Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225001	NM_001122772.3(AGAP2):c.3370G>A (p.Gly1124Ser)	AGAP2, AGAP2-AS1 (V768I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710458	NM_001122772.3(AGAP2):c.1357C>T (p.His453Tyr)	AGAP2, LOC126861542 (H117Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 29