34417[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
Select item 3312375	NM_001099218.3(RAD51AP2):c.3449T>C (p.Met1150Thr)	RAD51AP2 (M1141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151057	NM_001099218.3(RAD51AP2):c.3430C>T (p.His1144Tyr)	RAD51AP2 (H1135Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151056	NM_001099218.3(RAD51AP2):c.3427C>T (p.Leu1143Phe)	RAD51AP2 (L1134F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151055	NM_001099218.3(RAD51AP2):c.3416G>A (p.Arg1139Lys)	RAD51AP2 (R1130K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300336	NM_001099218.3(RAD51AP2):c.3392G>A (p.Arg1131Lys)	RAD51AP2 (R1122K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379006	NM_001099218.3(RAD51AP2):c.3388A>G (p.Ile1130Val)	RAD51AP2 (I1121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248084	NM_001099218.3(RAD51AP2):c.3356G>C (p.Arg1119Thr)	RAD51AP2 (R1110T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261277	NM_001099218.3(RAD51AP2):c.3355A>G (p.Arg1119Gly)	RAD51AP2 (R1110G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388354	NM_001099218.3(RAD51AP2):c.3229T>C (p.Tyr1077His)	RAD51AP2 (Y1077H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293666	NM_001099218.3(RAD51AP2):c.3210A>T (p.Arg1070Ser)	RAD51AP2 (R1061S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410806	NM_001099218.3(RAD51AP2):c.3160C>T (p.Pro1054Ser)	RAD51AP2 (P1045S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151054	NM_001099218.3(RAD51AP2):c.3113C>T (p.Pro1038Leu)	RAD51AP2 (P1029L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588121	NM_001099218.3(RAD51AP2):c.3077G>A (p.Arg1026His)	RAD51AP2 (R1017H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362701	NM_001099218.3(RAD51AP2):c.3056T>C (p.Met1019Thr)	RAD51AP2 (M1010T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151053	NM_001099218.3(RAD51AP2):c.3021G>C (p.Glu1007Asp)	RAD51AP2 (E1007D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233251	NM_001099218.3(RAD51AP2):c.2933T>G (p.Phe978Cys)	RAD51AP2 (F969C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151052	NM_001099218.3(RAD51AP2):c.2903T>G (p.Phe968Cys)	RAD51AP2 (F959C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381761	NM_001099218.3(RAD51AP2):c.2881G>T (p.Asp961Tyr)	RAD51AP2 (D952Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549128	NM_001099218.3(RAD51AP2):c.2782A>G (p.Asn928Asp)	RAD51AP2 (N919D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257609	NM_001099218.3(RAD51AP2):c.2599A>G (p.Met867Val)	RAD51AP2 (M867V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355111	NM_001099218.3(RAD51AP2):c.2594T>C (p.Phe865Ser)	RAD51AP2 (F856S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339149	NM_001099218.3(RAD51AP2):c.2558A>C (p.Asp853Ala)	RAD51AP2 (D844A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335051	NM_001099218.3(RAD51AP2):c.2500A>G (p.Lys834Glu)	RAD51AP2 (K825E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455198	NM_001099218.3(RAD51AP2):c.2485T>A (p.Tyr829Asn)	RAD51AP2 (Y820N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151049	NM_001099218.3(RAD51AP2):c.2464A>G (p.Ser822Gly)	RAD51AP2 (S822G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151048	NM_001099218.3(RAD51AP2):c.2443C>G (p.Leu815Val)	RAD51AP2 (L806V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393849	NM_001099218.3(RAD51AP2):c.2344A>T (p.Ile782Leu)	RAD51AP2 (I773L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528928	NM_001099218.3(RAD51AP2):c.2323A>G (p.Ser775Gly)	RAD51AP2 (S766G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312373	NM_001099218.3(RAD51AP2):c.2266G>A (p.Val756Ile)	RAD51AP2 (V756I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485597	NM_001099218.3(RAD51AP2):c.2226A>G (p.Ile742Met)	RAD51AP2 (I733M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545224	NM_001099218.3(RAD51AP2):c.2167T>A (p.Trp723Arg)	RAD51AP2 (W723R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151047	NM_001099218.3(RAD51AP2):c.2164A>G (p.Asn722Asp)	RAD51AP2 (N713D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519660	NM_001099218.3(RAD51AP2):c.2156A>T (p.Asn719Ile)	RAD51AP2 (N719I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297953	NM_001099218.3(RAD51AP2):c.2131A>G (p.Met711Val)	RAD51AP2 (M711V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151046	NM_001099218.3(RAD51AP2):c.2126A>G (p.Gln709Arg)	RAD51AP2 (Q709R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590639	NM_001099218.3(RAD51AP2):c.2101T>C (p.Ser701Pro)	RAD51AP2 (S701P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237344	NM_001099218.3(RAD51AP2):c.2095G>A (p.Glu699Lys)	RAD51AP2 (E690K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151045	NM_001099218.3(RAD51AP2):c.2021C>T (p.Thr674Ile)	RAD51AP2 (T674I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151044	NM_001099218.3(RAD51AP2):c.1996C>G (p.Leu666Val)	RAD51AP2 (L657V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271215	NM_001099218.3(RAD51AP2):c.1934C>G (p.Pro645Arg)	RAD51AP2 (P636R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278033	NM_001099218.3(RAD51AP2):c.1855A>G (p.Lys619Glu)	RAD51AP2 (K610E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312372	NM_001099218.3(RAD51AP2):c.1852C>T (p.Pro618Ser)	RAD51AP2 (P609S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151043	NM_001099218.3(RAD51AP2):c.1714G>A (p.Val572Ile)	RAD51AP2 (V572I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271085	NM_001099218.3(RAD51AP2):c.1669A>G (p.Thr557Ala)	RAD51AP2 (T548A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265883	NM_001099218.3(RAD51AP2):c.1642C>A (p.Gln548Lys)	RAD51AP2 (Q548K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241871	NM_001099218.3(RAD51AP2):c.1634T>C (p.Ile545Thr)	RAD51AP2 (I545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256179	NM_001099218.3(RAD51AP2):c.1481A>G (p.Asn494Ser)	RAD51AP2 (N485S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224345	NM_001099218.3(RAD51AP2):c.1424C>T (p.Thr475Met)	RAD51AP2 (T466M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470885	NM_001099218.3(RAD51AP2):c.1387G>A (p.Val463Ile)	RAD51AP2 (V454I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603292	NM_001099218.3(RAD51AP2):c.1312A>C (p.Ile438Leu)	RAD51AP2 (I429L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240682	NM_001099218.3(RAD51AP2):c.1275A>C (p.Lys425Asn)	RAD51AP2 (K425N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222323	NM_001099218.3(RAD51AP2):c.1268T>A (p.Met423Lys)	RAD51AP2 (M414K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347422	NM_001099218.3(RAD51AP2):c.1153G>A (p.Val385Ile)	RAD51AP2 (V376I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151042	NM_001099218.3(RAD51AP2):c.1094A>G (p.Lys365Arg)	RAD51AP2 (K365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258860	NM_001099218.3(RAD51AP2):c.1039A>C (p.Ser347Arg)	RAD51AP2 (S347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224702	NM_001099218.3(RAD51AP2):c.1031A>G (p.Asp344Gly)	RAD51AP2 (D344G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481609	NM_001099218.3(RAD51AP2):c.1030G>A (p.Asp344Asn)	RAD51AP2 (D344N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358377	NM_001099218.3(RAD51AP2):c.964A>G (p.Ile322Val)	RAD51AP2 (I313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151061	NM_001099218.3(RAD51AP2):c.779C>T (p.Pro260Leu)	RAD51AP2 (P251L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514673	NM_001099218.3(RAD51AP2):c.769A>G (p.Ile257Val)	RAD51AP2 (I257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605925	NM_001099218.3(RAD51AP2):c.757G>T (p.Asp253Tyr)	RAD51AP2 (D244Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588759	NM_001099218.3(RAD51AP2):c.699A>T (p.Lys233Asn)	RAD51AP2 (K233N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151060	NM_001099218.3(RAD51AP2):c.656C>T (p.Pro219Leu)	RAD51AP2 (P219L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312374	NM_001099218.3(RAD51AP2):c.640G>A (p.Ala214Thr)	RAD51AP2 (A205T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650698	NM_001099218.3(RAD51AP2):c.603T>G (p.Thr201=)	RAD51AP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514646	NM_001099218.3(RAD51AP2):c.580G>C (p.Asp194His)	RAD51AP2 (D185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151059	NM_001099218.3(RAD51AP2):c.577T>G (p.Leu193Val)	RAD51AP2 (L184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564530	NM_001099218.3(RAD51AP2):c.463G>T (p.Val155Phe)	RAD51AP2 (V155F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151058	NM_001099218.3(RAD51AP2):c.350C>T (p.Ser117Phe)	LOC126806156, RAD51AP2 (S117F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612571	NM_001099218.3(RAD51AP2):c.283A>G (p.Ser95Gly)	LOC126806156, RAD51AP2 (S86G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151051	NM_001099218.3(RAD51AP2):c.280G>A (p.Val94Ile)	LOC126806156, RAD51AP2 (V85I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151050	NM_001099218.3(RAD51AP2):c.268G>A (p.Val90Met)	LOC126806156, RAD51AP2 (V81M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519689	NM_001099218.3(RAD51AP2):c.187G>A (p.Val63Ile)	LOC126806156, RAD51AP2 (V63I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382325	NM_001099218.3(RAD51AP2):c.184A>C (p.Lys62Gln)	LOC126806156, RAD51AP2 (K62Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404751	NM_001099218.3(RAD51AP2):c.81T>A (p.Asp27Glu)	LOC126806156, RAD51AP2 (D18E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606185	NM_001099218.3(RAD51AP2):c.10C>G (p.Pro4Ala)	LOC126806156, RAD51AP2 (P4A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247533	NC_000002.11:g.(?_15307172)_(17963206_?)dup	CYRIA, DDX1 +7 more	Duplication	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2427589	NC_000002.11:g.(?_17034358)_(17963206_?)del	GEN1, RAD51AP2 +2 more	Deletion	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1458517	NC_000002.11:g.(?_15760332)_(17692222_?)del	CYRIA, DDX1 +3 more	Deletion	not provided	GPathogenic
Select item 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 1012059	NC_000002.11:g.(?_17034358)_(17963206_?)dup	GEN1, RAD51AP2 +2 more	Duplication	not provided	GUncertain significance
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 686578	GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3	CYRIA, DDX1 +11 more	Copy number gain	not provided	GPathogenic
Select item 562638	GRCh37/hg19 2p24.2(chr2:16926193-18225507)x3	MSGN1, KCNS3 +4 more	Copy number gain	not provided	GLikely benign
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic

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