ClinVar for Gene (Select 10956) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303517	NM_006812.4(OS9):c.628G>A (p.Val210Met)	OS9 (V177M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303516	NM_006812.4(OS9):c.259G>A (p.Glu87Lys)	OS9 (E87K)	Single nucleotide variant (missense variant +1 more)	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 3206995	NM_006812.4(OS9):c.895G>T (p.Ala299Ser)	OS9 (A267S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206994	NM_006812.4(OS9):c.596G>A (p.Gly199Asp)	OS9 (G166D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206993	NM_006812.4(OS9):c.373G>A (p.Gly125Arg)	OS9 (G66R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206992	NM_006812.4(OS9):c.323C>T (p.Ala108Val)	OS9 (A108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206991	NM_006812.4(OS9):c.286C>A (p.Pro96Thr)	OS9 (P96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206990	NM_006812.4(OS9):c.1915C>T (p.Arg639Trp)	OS9 (R532W +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206989	NM_006812.4(OS9):c.1789C>T (p.Arg597Cys)	OS9 (R490C +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206988	NM_006812.4(OS9):c.1699C>G (p.Pro567Ala)	OS9 (P567A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206987	NM_006812.4(OS9):c.1624C>T (p.Arg542Trp)	OS9 (R527W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206986	NM_006812.4(OS9):c.1607A>G (p.Asp536Gly)	OS9 (D521G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206984	NM_006812.4(OS9):c.1151G>T (p.Gly384Val)	OS9 (G325V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206983	NM_006812.4(OS9):c.1036G>T (p.Ala346Ser)	OS9 (A287S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2687861	NM_006812.4(OS9):c.993+5G>A	OS9	Single nucleotide variant (intron variant)	Hereditary cancer	GLikely benign
Select item 2643148	NM_006812.4(OS9):c.744T>G (p.Pro248=)	OS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643147	NM_006812.4(OS9):c.621C>T (p.Ile207=)	OS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643146	NM_006812.4(OS9):c.308G>C (p.Ser103Thr)	OS9 (S103T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643145	NM_006812.4(OS9):c.43C>G (p.Leu15Val)	OS9 (L15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618018	NM_006812.4(OS9):c.673C>A (p.Pro225Thr)	OS9 (P192T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613913	NM_006812.4(OS9):c.753G>C (p.Gln251His)	OS9 (Q199H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569706	NM_006812.4(OS9):c.677G>A (p.Arg226Gln)	OS9 (R174Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557382	NM_006812.4(OS9):c.1652G>T (p.Gly551Val)	OS9 (G536V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524732	NM_006812.4(OS9):c.667C>T (p.Arg223Cys)	OS9 (R223C +3 more)	Single nucleotide variant (missense variant)	not specified	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 2475121	NM_006812.4(OS9):c.1288C>G (p.Arg430Gly)	OS9 (R378G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465328	NM_006812.4(OS9):c.1946G>A (p.Arg649Gln)	OS9 (R520Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463603	NM_006812.4(OS9):c.1457G>A (p.Arg486Gln)	OS9 (R454Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460947	NM_006812.4(OS9):c.1583C>T (p.Pro528Leu)	OS9 (P514L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2410967	NM_006812.4(OS9):c.1149A>G (p.Ile383Met)	OS9 (I324M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407356	NM_006812.4(OS9):c.896C>T (p.Ala299Val)	OS9 (A240V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404742	NM_006812.4(OS9):c.431A>G (p.Tyr144Cys)	OS9 (Y85C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401955	NM_006812.4(OS9):c.218G>A (p.Cys73Tyr)	OS9 (C73Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400556	NM_006812.4(OS9):c.598G>A (p.Ala200Thr)	OS9 (A167T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392809	NM_006812.4(OS9):c.1790G>A (p.Arg597His)	OS9 (R582H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380031	NM_006812.4(OS9):c.1910G>A (p.Arg637His)	OS9 (R568H +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368390	NM_006812.4(OS9):c.602G>T (p.Gly201Val)	OS9 (G142V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368263	NM_006812.4(OS9):c.835C>G (p.Leu279Val)	OS9 (L227V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362946	NM_006812.4(OS9):c.1615C>A (p.His539Asn)	OS9 (H524N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354375	NM_006812.4(OS9):c.1862T>C (p.Ile621Thr)	OS9 (I514T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353791	NM_006812.4(OS9):c.995A>G (p.Glu332Gly)	OS9 (E300G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352421	NM_006812.4(OS9):c.1532A>G (p.Glu511Gly)	OS9 (E496G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351731	NM_006812.4(OS9):c.998A>C (p.Gln333Pro)	OS9 (Q333P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344717	NM_006812.4(OS9):c.1646G>A (p.Arg549His)	OS9 (R535H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314682	NM_006812.4(OS9):c.540G>C (p.Lys180Asn)	OS9 (K180N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310500	NM_006812.4(OS9):c.1621G>A (p.Val541Ile)	OS9 (V527I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305045	NM_006812.4(OS9):c.1614G>C (p.Glu538Asp)	OS9 (E538D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295782	NM_006812.4(OS9):c.1834G>A (p.Asp612Asn)	OS9 (D525N +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272992	NM_006812.4(OS9):c.902C>T (p.Pro301Leu)	OS9 (P242L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264084	NM_006812.4(OS9):c.560C>T (p.Pro187Leu)	OS9 (P187L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251328	NM_006812.4(OS9):c.605T>C (p.Ile202Thr)	OS9 (I150T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232139	NM_006812.4(OS9):c.1648C>G (p.Leu550Val)	OS9 (L550V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219202	NM_006812.4(OS9):c.1269G>C (p.Glu423Asp)	OS9 (E423D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215387	NM_006812.4(OS9):c.1225C>T (p.Arg409Trp)	OS9 (R409W +4 more)	Single nucleotide variant (missense variant)	not specified	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 1235257	NM_006812.4(OS9):c.1395A>G (p.Glu465=)	OS9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 781084	NM_006812.4(OS9):c.141G>A (p.Pro47=)	OS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776728	NM_006812.4(OS9):c.481-7T>C	OS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768559	NM_006812.4(OS9):c.1361C>T (p.Ser454Leu)	OS9 (S454L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 503790	NM_006812.4(OS9):c.1264GATGAGGATGAA[1] (p.418DE[4])	OS9	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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
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 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

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Links from Gene

Items: 71