ClinVar for Gene (Select 100130776) - ClinVar - NCBI

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Links from Gene

Items: 19

	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 3058699	NM_001122772.3(AGAP2):c.3288C>T (p.His1096=)	AGAP2, AGAP2-AS1	Single nucleotide variant (synonymous variant +1 more)	AGAP2-related condition	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 condition	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 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 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 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic