30375[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 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 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
Select item 2409250	NM_001080454.2(ACSM4):c.961C>A (p.Pro321Thr)	ACSM4, CD163L1 (P321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263249	NM_001080454.2(ACSM4):c.1217A>G (p.Glu406Gly)	ACSM4, CD163L1 (E406G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140588	NM_001080454.2(ACSM4):c.1403T>A (p.Val468Asp)	ACSM4, CD163L1 +1 more (V468D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352039	NM_001080454.2(ACSM4):c.1528C>T (p.Arg510Cys)	ACSM4, CD163L1 +1 more (R510C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268669	NM_001080454.2(ACSM4):c.1595T>C (p.Leu532Ser)	ACSM4, CD163L1 (L532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211725	NM_001080454.2(ACSM4):c.1705C>T (p.Arg569Cys)	ACSM4, CD163L1 (R569C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140325	NM_174941.6(CD163L1):c.4315G>A (p.Asp1439Asn)	CD163L1 (D1439N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319720	NM_174941.6(CD163L1):c.4276T>C (p.Ser1426Pro)	CD163L1 (S1426P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614548	NM_174941.6(CD163L1):c.4252G>C (p.Glu1418Gln)	CD163L1 (E1418Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024838	NM_174941.6(CD163L1):c.4066T>C (p.Ser1356Pro)	CD163L1, LOC126861436 (S1356P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3140324	NM_174941.6(CD163L1):c.4060A>G (p.Asn1354Asp)	CD163L1, LOC126861436 (N1354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140323	NM_174941.6(CD163L1):c.4011C>G (p.His1337Gln)	CD163L1, LOC126861436 (H1337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140322	NM_174941.6(CD163L1):c.3979G>A (p.Ala1327Thr)	CD163L1, LOC126861436 (A1327T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140321	NM_174941.6(CD163L1):c.3940C>T (p.Arg1314Trp)	CD163L1, LOC126861436 (R1324W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732048	NM_174941.6(CD163L1):c.3821C>A (p.Ser1274Tyr)	CD163L1, LOC126861436 (S1274Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2280578	NM_174941.6(CD163L1):c.3803G>A (p.Gly1268Asp)	CD163L1, LOC126861436 (G1278D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330531	NM_174941.6(CD163L1):c.3790G>T (p.Ala1264Ser)	CD163L1, LOC126861436 (A1264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600229	NM_174941.6(CD163L1):c.3760G>A (p.Glu1254Lys)	CD163L1, LOC126861436 (E1264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348545	NM_174941.6(CD163L1):c.3657A>G (p.Ile1219Met)	CD163L1 (I1219M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353953	NM_174941.6(CD163L1):c.3650T>G (p.Ile1217Ser)	CD163L1 (I1217S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605051	NM_174941.6(CD163L1):c.3644C>T (p.Thr1215Met)	CD163L1 (T1215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365662	NM_174941.6(CD163L1):c.3583G>A (p.Ala1195Thr)	CD163L1 (A1205T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558655	NM_174941.6(CD163L1):c.3526A>G (p.Ile1176Val)	CD163L1 (I1176V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624318	NM_174941.6(CD163L1):c.3524C>T (p.Ala1175Val)	CD163L1 (A1175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290694	NM_174941.6(CD163L1):c.3499G>A (p.Val1167Ile)	CD163L1 (V1167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642670	NM_174941.6(CD163L1):c.3393A>C (p.Ala1131=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642669	NM_174941.6(CD163L1):c.3393A>G (p.Ala1131=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642671	NM_174941.6(CD163L1):c.3378G>A (p.Arg1126=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642672	NM_174941.6(CD163L1):c.3354C>G (p.Arg1118=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402042	NM_174941.6(CD163L1):c.3353G>A (p.Arg1118His)	CD163L1 (R1118H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2642673	NM_174941.6(CD163L1):c.3303T>C (p.Asp1101=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642674	NM_174941.6(CD163L1):c.3282G>A (p.Gly1094=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642675	NM_174941.6(CD163L1):c.3279G>A (p.Glu1093=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642676	NM_174941.6(CD163L1):c.3273T>C (p.Phe1091=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642677	NM_174941.6(CD163L1):c.3261C>G (p.Val1087=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642678	NM_174941.6(CD163L1):c.3243G>A (p.Val1081=)	CD163L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597605	NM_174941.6(CD163L1):c.3242T>A (p.Val1081Glu)	CD163L1 (V1091E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642679	NM_174941.6(CD163L1):c.3163G>A (p.Gly1055Ser)	CD163L1 (G1055S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3140320	NM_174941.6(CD163L1):c.3160G>C (p.Asp1054His)	CD163L1 (D1064H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487944	NM_174941.6(CD163L1):c.3137C>T (p.Ala1046Val)	CD163L1 (A1046V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358753	NM_174941.6(CD163L1):c.3131G>A (p.Arg1044His)	CD163L1 (R1044H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225043	NM_174941.6(CD163L1):c.3110G>A (p.Arg1037His)	CD163L1 (R1037H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140319	NM_174941.6(CD163L1):c.3034G>A (p.Ala1012Thr)	CD163L1 (A1022T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242130	NM_174941.6(CD163L1):c.3034G>T (p.Ala1012Ser)	CD163L1 (A1012S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2467885	NM_174941.6(CD163L1):c.2999C>G (p.Thr1000Arg)	CD163L1 (T1000R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322427	NM_174941.6(CD163L1):c.2950C>A (p.Leu984Ile)	CD163L1 (L994I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212334	NM_174941.6(CD163L1):c.2941A>G (p.Met981Val)	CD163L1 (M981V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140318	NM_174941.6(CD163L1):c.2882G>C (p.Arg961Pro)	CD163L1 (R961P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400540	NM_174941.6(CD163L1):c.2879T>C (p.Val960Ala)	CD163L1 (V960A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264730	NM_174941.6(CD163L1):c.2863A>G (p.Ile955Val)	CD163L1 (I955V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568287	NM_174941.6(CD163L1):c.2861A>G (p.Tyr954Cys)	CD163L1 (Y954C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264734	NM_174941.6(CD163L1):c.2660G>C (p.Ser887Thr)	CD163L1 (S887T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264736	NM_174941.6(CD163L1):c.2635C>T (p.His879Tyr)	CD163L1 (H879Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217295	NM_174941.6(CD163L1):c.2473T>C (p.Ser825Pro)	CD163L1 (S835P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242747	NM_174941.6(CD163L1):c.2450G>A (p.Arg817His)	CD163L1 (R827H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543561	NM_174941.6(CD163L1):c.2449C>T (p.Arg817Cys)	CD163L1 (R817C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140317	NM_174941.6(CD163L1):c.2434C>T (p.His812Tyr)	CD163L1 (H812Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140316	NM_174941.6(CD163L1):c.2333C>T (p.Ala778Val)	CD163L1 (A778V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377287	NM_174941.6(CD163L1):c.2260A>G (p.Met754Val)	CD163L1 (M754V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349164	NM_174941.6(CD163L1):c.2183G>A (p.Cys728Tyr)	CD163L1 (C738Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140315	NM_174941.6(CD163L1):c.2177T>C (p.Val726Ala)	CD163L1 (V726A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681705	NM_174941.6(CD163L1):c.2175A>C (p.Glu725Asp)	CD163L1 (E725D +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2308206	NM_174941.6(CD163L1):c.2170G>T (p.Ala724Ser)	CD163L1 (A724S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264728	NM_174941.6(CD163L1):c.2131G>A (p.Val711Met)	CD163L1 (V711M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515857	NM_174941.6(CD163L1):c.2095T>A (p.Cys699Ser)	CD163L1 (C699S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476995	NM_174941.6(CD163L1):c.2083G>A (p.Gly695Arg)	CD163L1 (G705R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475889	NM_174941.6(CD163L1):c.2063T>C (p.Met688Thr)	CD163L1 (M688T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478569	NM_174941.6(CD163L1):c.1955G>A (p.Cys652Tyr)	CD163L1 (C662Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264729	NM_174941.6(CD163L1):c.1804G>A (p.Gly602Arg)	CD163L1 (G612R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024755	NM_174941.6(CD163L1):c.1772G>T (p.Arg591Leu)	CD163L1 (R591L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3140314	NM_174941.6(CD163L1):c.1735G>A (p.Ala579Thr)	CD163L1 (A579T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288022	NM_174941.6(CD163L1):c.1721C>T (p.Thr574Ile)	CD163L1 (T574I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569915	NM_174941.6(CD163L1):c.1696G>A (p.Val566Ile)	CD163L1 (V576I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379250	NM_174941.6(CD163L1):c.1676G>T (p.Gly559Val)	CD163L1 (G569V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264733	NM_174941.6(CD163L1):c.1666G>A (p.Glu556Lys)	CD163L1 (E556K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469014	NM_174941.6(CD163L1):c.1637T>C (p.Ile546Thr)	CD163L1 (I546T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334483	NM_174941.6(CD163L1):c.1630T>C (p.Ser544Pro)	CD163L1 (S544P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464631	NM_174941.6(CD163L1):c.1612A>G (p.Ile538Val)	CD163L1 (I548V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140313	NM_174941.6(CD163L1):c.1379G>A (p.Arg460Gln)	CD163L1 (R460Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140312	NM_174941.6(CD163L1):c.1327T>A (p.Ser443Thr)	CD163L1 (S453T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369318	NM_174941.6(CD163L1):c.1258C>T (p.Arg420Cys)	CD163L1 (R420C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264737	NM_174941.6(CD163L1):c.1226A>C (p.Gln409Pro)	CD163L1 (Q419P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275866	NM_174941.6(CD163L1):c.1223A>G (p.Lys408Arg)	CD163L1 (K418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312524	NM_174941.6(CD163L1):c.1048G>T (p.Asp350Tyr)	CD163L1 (D350Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339987	NM_174941.6(CD163L1):c.1043A>G (p.Asn348Ser)	CD163L1 (N348S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140330	NM_174941.6(CD163L1):c.955T>A (p.Ser319Thr)	CD163L1 (S329T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377397	NM_174941.6(CD163L1):c.906G>C (p.Gln302His)	CD163L1 (Q312H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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