16921[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	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
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 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 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 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 2225001	NM_001122772.3(AGAP2):c.3370G>A (p.Gly1124Ser)	AGAP2, AGAP2-AS1 (G1124S +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 (non-coding transcript 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 (non-coding transcript 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 (non-coding transcript variant +1 more)	AGAP2-related disorder	GLikely benign
Select item 2306358	NM_001122772.3(AGAP2):c.3198C>G (p.Asp1066Glu)	AGAP2, AGAP2-AS1 (D1066E +1 more)	Single nucleotide variant (non-coding transcript 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 (non-coding transcript variant +1 more)	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 (non-coding transcript variant +1 more)	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 (non-coding transcript 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 (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3357478	NM_001122772.3(AGAP2):c.2951G>T (p.Arg984Leu)	AGAP2, AGAP2-AS1 (R628L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	AGAP2-related disorder	GUncertain significance
Select item 3357016	NM_001122772.3(AGAP2):c.2949T>A (p.Val983=)	AGAP2, AGAP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	AGAP2-related disorder	GLikely benign
Select item 3093737	NM_001122772.3(AGAP2):c.2834T>C (p.Ile945Thr)	AGAP2, AGAP2-AS1 (I945T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2540332	NM_001122772.3(AGAP2):c.2822A>T (p.Lys941Met)	AGAP2, AGAP2-AS1 (K585M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3093727	NM_001122772.3(AGAP2):c.2729T>C (p.Leu910Pro)	AGAP2, AGAP2-AS1 (L554P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2636980	NM_001122772.3(AGAP2):c.2642T>C (p.Val881Ala)	AGAP2, AGAP2-AS1 (V525A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	AGAP2-related disorder	GUncertain significance
Select item 3058107	NM_001122772.3(AGAP2):c.2463T>C (p.Ser821=)	AGAP2	Single nucleotide variant (synonymous variant)	AGAP2-related disorder	GLikely benign
Select item 2457180	NM_001122772.3(AGAP2):c.2392A>C (p.Lys798Gln)	AGAP2 (K462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039943	NM_001122772.3(AGAP2):c.2346C>T (p.Pro782=)	AGAP2	Single nucleotide variant (synonymous variant)	AGAP2-related disorder	GLikely benign
Select item 2459650	NM_001122772.3(AGAP2):c.2314A>G (p.Thr772Ala)	AGAP2 (T772A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277840	NM_001122772.3(AGAP2):c.2216G>A (p.Arg739Gln)	AGAP2 (R403Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093715	NM_001122772.3(AGAP2):c.2167G>A (p.Gly723Ser)	AGAP2 (G387S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093712	NM_001122772.3(AGAP2):c.2000G>T (p.Gly667Val)	AGAP2 (G331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613208	NM_001122772.3(AGAP2):c.1918C>T (p.His640Tyr)	AGAP2 (H304Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412248	NM_001122772.3(AGAP2):c.1882G>A (p.Ala628Thr)	AGAP2 (A292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049551	NM_001122772.3(AGAP2):c.1794G>A (p.Gln598=)	AGAP2	Single nucleotide variant (synonymous variant)	AGAP2-related disorder	GLikely benign
Select item 3060425	NM_001122772.3(AGAP2):c.1746G>T (p.Leu582=)	AGAP2	Single nucleotide variant (synonymous variant)	AGAP2-related disorder	GBenign
Select item 3093703	NM_001122772.3(AGAP2):c.1733C>T (p.Ala578Val)	AGAP2 (A242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395463	NM_001122772.3(AGAP2):c.1709G>A (p.Arg570His)	AGAP2 (R570H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290213	NM_001122772.3(AGAP2):c.1640C>G (p.Thr547Ser)	AGAP2 (T547S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725324	NM_001122772.3(AGAP2):c.1581G>A (p.Val527=)	AGAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 1710458	NM_001122772.3(AGAP2):c.1357C>T (p.His453Tyr)	AGAP2, LOC126861542 (H117Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 2643149	NM_001122772.3(AGAP2):c.1167T>C (p.Pro389=)	AGAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3275120	NM_001122772.3(AGAP2):c.1129T>C (p.Ser377Pro)	AGAP2 (S377P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275099	NM_001122772.3(AGAP2):c.1029G>T (p.Lys343Asn)	AGAP2 (K343N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044506	NM_001122772.3(AGAP2):c.978G>C (p.Pro326=)	AGAP2	Single nucleotide variant (synonymous variant +1 more)	AGAP2-related disorder	GLikely benign
Select item 3093851	NM_001122772.3(AGAP2):c.970C>T (p.Pro324Ser)	AGAP2 (P324S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520244	NM_001122772.3(AGAP2):c.970C>G (p.Pro324Ala)	AGAP2 (P324A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611091	NM_001122772.3(AGAP2):c.961C>G (p.Leu321Val)	AGAP2 (L321V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489520	NM_001122772.3(AGAP2):c.940G>C (p.Gly314Arg)	AGAP2 (G314R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544186	NM_001122772.3(AGAP2):c.895C>T (p.Pro299Ser)	AGAP2 (P299S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093832	NM_001122772.3(AGAP2):c.874C>A (p.Pro292Thr)	AGAP2 (P292T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531154	NM_001122772.3(AGAP2):c.811G>T (p.Gly271Cys)	AGAP2 (G271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515402	NM_001122772.3(AGAP2):c.784G>T (p.Ala262Ser)	AGAP2 (A262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093812	NM_001122772.3(AGAP2):c.683C>T (p.Ala228Val)	AGAP2 (A228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093808	NM_001122772.3(AGAP2):c.659G>A (p.Arg220Lys)	AGAP2 (R220K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240305	NM_001122772.3(AGAP2):c.634T>C (p.Trp212Arg)	AGAP2 (W212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686434	NM_001122772.3(AGAP2):c.629T>A (p.Leu210Gln)	AGAP2 (L210Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312522	NM_001122772.3(AGAP2):c.607G>C (p.Gly203Arg)	AGAP2 (G203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263487	NM_001122772.3(AGAP2):c.601G>A (p.Gly201Ser)	AGAP2 (G201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1328349	NM_001122772.3(AGAP2):c.486C>A (p.Gly162=)	AGAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1328325	NM_001122772.3(AGAP2):c.485G>A (p.Gly162Asp)	AGAP2 (G162D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3275139	NM_001122772.3(AGAP2):c.450G>C (p.Trp150Cys)	AGAP2 (W150C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058368	NM_001122772.3(AGAP2):c.387C>T (p.Pro129=)	AGAP2	Single nucleotide variant (synonymous variant +1 more)	AGAP2-related disorder	GLikely benign
Select item 2296826	NM_001122772.3(AGAP2):c.380T>A (p.Leu127Gln)	AGAP2 (L127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569065	NM_001122772.3(AGAP2):c.347C>A (p.Ala116Asp)	AGAP2 (A116D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553274	NM_001122772.3(AGAP2):c.328C>T (p.Arg110Cys)	AGAP2 (R110C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495812	NM_001122772.3(AGAP2):c.322C>T (p.Pro108Ser)	AGAP2 (P108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244424	NM_001122772.3(AGAP2):c.308C>T (p.Pro103Leu)	AGAP2 (P103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275129	NM_001122772.3(AGAP2):c.113C>T (p.Ala38Val)	AGAP2 (A38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275111	NM_001122772.3(AGAP2):c.22C>G (p.Leu8Val)	AGAP2 (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643150	NM_014770.4(AGAP2):c.157C>A (p.Arg53=)	AGAP2, LOC130008146	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3093670	NM_014770.4(AGAP2):c.106G>A (p.Val36Met)	AGAP2 (V36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093829	NM_014770.4(AGAP2):c.83G>A (p.Arg28His)	AGAP2 (R28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052503	NM_014770.4(AGAP2):c.32C>T (p.Ala11Val)	AGAP2 (A11V)	Single nucleotide variant (missense variant)	AGAP2-related disorder	GLikely benign
Select item 2212680	NM_014770.4(AGAP2):c.22G>A (p.Val8Ile)	AGAP2 (V8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590321	NM_014770.4(AGAP2):c.5A>G (p.His2Arg)	AGAP2 (H2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 93