30097[HGNC] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 155228	GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3	ANKRD42, ANKRD42-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 157216	CM000673.1:g.82858667_82876270dup	LOC130006532, LOC130006533 +2 more	Duplication	Normal pregnancy	Gnot provided
Select item 157217	NC_000011.10:g.83154476_83165228dup	LOC130006532, LOC130006533 +2 more	Duplication	Preeclampsia	Gnot provided
Select item 2305640	NM_001346413.3(PCF11):c.69G>T (p.Gln23His)	PCF11 (Q23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210179	NM_001346413.3(PCF11):c.445C>T (p.Pro149Ser)	PCF11 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305085	NM_001346413.3(PCF11):c.517C>G (p.Pro173Ala)	PCF11 (P173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305094	NM_001346413.3(PCF11):c.542G>A (p.Ser181Asn)	PCF11 (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268639	NM_001346413.3(PCF11):c.560C>G (p.Thr187Ser)	PCF11 (T187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210180	NM_001346413.3(PCF11):c.726G>C (p.Gln242His)	PCF11 (Q242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610721	NM_001346413.3(PCF11):c.761C>T (p.Ser254Phe)	PCF11 (S254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565199	NM_001346413.3(PCF11):c.782T>C (p.Ile261Thr)	PCF11 (I261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210182	NM_001346413.3(PCF11):c.806C>T (p.Pro269Leu)	PCF11 (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262867	NM_001346413.3(PCF11):c.841C>T (p.Pro281Ser)	PCF11 (P281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305098	NM_001346413.3(PCF11):c.847C>G (p.Pro283Ala)	PCF11 (P283A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540597	NM_001346413.3(PCF11):c.847C>T (p.Pro283Ser)	PCF11 (P283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305086	NM_001346413.3(PCF11):c.912A>C (p.Gln304His)	PCF11 (Q304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210158	NM_001346413.3(PCF11):c.1091C>T (p.Ser364Leu)	PCF11 (S364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468139	NM_001346413.3(PCF11):c.1186G>C (p.Asp396His)	PCF11 (D396H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210160	NM_001346413.3(PCF11):c.1191G>A (p.Met397Ile)	PCF11 (M397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210161	NM_001346413.3(PCF11):c.1295A>G (p.Asp432Gly)	PCF11 (D432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389350	NM_001346413.3(PCF11):c.1303A>G (p.Met435Val)	PCF11 (M435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305097	NM_001346413.3(PCF11):c.1309T>G (p.Ser437Ala)	PCF11 (S437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275913	NM_001346413.3(PCF11):c.1313C>T (p.Ser438Phe)	PCF11 (S438F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374370	NM_001346413.3(PCF11):c.1378A>G (p.Ile460Val)	PCF11 (I460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469154	NM_001346413.3(PCF11):c.1400A>G (p.Gln467Arg)	PCF11 (Q467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255543	NM_001346413.3(PCF11):c.1459T>C (p.Ser487Pro)	PCF11 (S487P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305088	NM_001346413.3(PCF11):c.1471A>G (p.Ile491Val)	PCF11 (I491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210162	NM_001346413.3(PCF11):c.1537A>G (p.Thr513Ala)	PCF11 (T513A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259075	NM_001346413.3(PCF11):c.1609C>T (p.Pro537Ser)	LOC126861280, PCF11 (P537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210164	NM_001346413.3(PCF11):c.1631C>T (p.Ala544Val)	LOC126861280, PCF11 (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345028	NM_001346413.3(PCF11):c.1657C>T (p.Arg553Trp)	LOC126861280, PCF11 (R553W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210165	NM_001346413.3(PCF11):c.1694G>A (p.Arg565Gln)	LOC126861280, PCF11 (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210166	NM_001346413.3(PCF11):c.1699C>G (p.Gln567Glu)	LOC126861280, PCF11 (Q567E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210167	NM_001346413.3(PCF11):c.1711A>T (p.Asn571Tyr)	LOC126861280, PCF11 (N571Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305095	NM_001346413.3(PCF11):c.1775A>C (p.Lys592Thr)	LOC126861280, PCF11 (K592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305102	NM_001346413.3(PCF11):c.2087A>G (p.Gln696Arg)	LOC126861280, PCF11 (Q696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305090	NM_001346413.3(PCF11):c.2503A>G (p.Arg835Gly)	PCF11 (R704G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305099	NM_001346413.3(PCF11):c.2549A>C (p.Glu850Ala)	PCF11 (E719A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210168	NM_001346413.3(PCF11):c.2761C>T (p.Arg921Trp)	PCF11 (R921W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381465	NM_001346413.3(PCF11):c.2905A>G (p.Ile969Val)	PCF11 (I838V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781028	NM_001346413.3(PCF11):c.2908G>A (p.Gly970Ser)	PCF11 (G839S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3210169	NM_001346413.3(PCF11):c.2926G>A (p.Gly976Ser)	PCF11 (G845S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526780	NM_001346413.3(PCF11):c.2975G>C (p.Gly992Ala)	PCF11 (G992A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305096	NM_001346413.3(PCF11):c.2977G>A (p.Gly993Ser)	PCF11 (G862S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726112	NM_001346413.3(PCF11):c.3046C>T (p.Pro1016Ser)	PCF11 (P1016S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3305091	NM_001346413.3(PCF11):c.3281C>T (p.Ser1094Leu)	PCF11 (S1094L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306754	NM_001346413.3(PCF11):c.3311A>G (p.His1104Arg)	PCF11 (H973R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315126	NM_001346413.3(PCF11):c.3323G>T (p.Gly1108Val)	PCF11 (G1108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618212	NM_001346413.3(PCF11):c.3329A>G (p.Asn1110Ser)	PCF11 (N979S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305093	NM_001346413.3(PCF11):c.3332T>G (p.Leu1111Arg)	PCF11 (L980R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283161	NM_001346413.3(PCF11):c.3343G>C (p.Gly1115Arg)	PCF11 (G984R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210171	NM_001346413.3(PCF11):c.3370A>T (p.Ile1124Phe)	PCF11 (I1124F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305101	NM_001346413.3(PCF11):c.3371T>C (p.Ile1124Thr)	PCF11 (I1124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305084	NM_001346413.3(PCF11):c.3431T>C (p.Val1144Ala)	PCF11 (V1144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305089	NM_001346413.3(PCF11):c.3467G>T (p.Gly1156Val)	PCF11 (G1025V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305103	NM_001346413.3(PCF11):c.3490G>A (p.Gly1164Ser)	PCF11 (G1164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210172	NM_001346413.3(PCF11):c.3530C>T (p.Pro1177Leu)	PCF11 (P1046L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218347	NM_001346413.3(PCF11):c.3618del (p.Phe1206fs)	PCF11 (F1075fs +1 more)	Deletion (frameshift variant)	Mediastinal germ cell tumor +1 more	GUncertain significance
Select item 3305087	NM_001346413.3(PCF11):c.3646C>G (p.Pro1216Ala)	PCF11 (P1085A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305159	NM_001346413.3(PCF11):c.3662T>A (p.Val1221Glu)	PCF11 (V1221E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305100	NM_001346413.3(PCF11):c.3697G>C (p.Ala1233Pro)	PCF11 (A1102P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597159	NM_001346413.3(PCF11):c.3715C>T (p.Pro1239Ser)	PCF11 (P1239S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623161	NM_001346413.3(PCF11):c.3741T>G (p.Phe1247Leu)	PCF11 (F1247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277274	NM_001346413.3(PCF11):c.3794C>T (p.Pro1265Leu)	PCF11 (P1134L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210173	NM_001346413.3(PCF11):c.3808C>T (p.Pro1270Ser)	PCF11 (P1139S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210175	NM_001346413.3(PCF11):c.3820T>G (p.Phe1274Val)	PCF11 (F1143V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210176	NM_001346413.3(PCF11):c.3856C>T (p.His1286Tyr)	PCF11 (H1286Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240668	NM_001346413.3(PCF11):c.3910C>T (p.Pro1304Ser)	PCF11 (P1304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210177	NM_001346413.3(PCF11):c.4039C>A (p.Gln1347Lys)	PCF11 (Q1347K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528119	NM_001346413.3(PCF11):c.4121A>C (p.Gln1374Pro)	PCF11 (Q1374P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790649	NM_001346413.3(PCF11):c.4206A>G (p.Glu1402=)	PCF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2494825	NM_001346413.3(PCF11):c.4298C>A (p.Pro1433His)	PCF11 (P1301H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642236	NM_001346413.3(PCF11):c.4359A>T (p.Thr1453=)	PCF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2394238	NM_001346413.3(PCF11):c.4528G>A (p.Val1510Ile)	PCF11 (V1379I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781029	NM_001346413.3(PCF11):c.4536T>C (p.His1512=)	PCF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477384	NM_001346413.3(PCF11):c.4540C>T (p.Arg1514Cys)	PCF11 (R1383C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383297	NM_001346413.3(PCF11):c.4568T>C (p.Ile1523Thr)	PCF11 (I1523T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266201	NM_001346413.3(PCF11):c.4583T>C (p.Ile1528Thr)	PCF11 (I1527T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390959	NM_001346413.3(PCF11):c.4849T>C (p.Ser1617Pro)	ANKRD42-DT, PCF11 (S1486P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538490	NM_001346413.3(PCF11):c.4993T>C (p.Cys1665Arg)	ANKRD42-DT, PCF11 (C1534R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553041	NM_001346413.3(PCF11):c.5033C>T (p.Thr1678Ile)	ANKRD42-DT, PCF11 (T1546I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372824	NM_001346413.3(PCF11):c.5050G>A (p.Glu1684Lys)	ANKRD42-DT, PCF11 (E1684K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1808160	GRCh37/hg19 11q14.1(chr11:82859094-83324406)x3	ANKRD42, CCDC90B +2 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980960	GRCh37/hg19 11q14.1(chr11:82618269-83454773)x3	ANKRD42, CCDC90B +4 more	Copy number gain	not provided	GUncertain significance
Select item 815444	GRCh37/hg19 11q14.1(chr11:82788438-82910068)x1	ANKRD42, PCF11	Copy number loss	not provided	GUncertain significance
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 443209	GRCh37/hg19 11q14.1(chr11:82653859-83566849)x3	ANKRD42, CCDC90B +3 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 99