ClinVar for Gene (Select 55388) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124298	NM_018518.5(MCM10):c.871A>G (p.Ile291Val)	MCM10 (I292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124297	NM_018518.5(MCM10):c.766C>T (p.Arg256Trp)	MCM10 (R257W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124296	NM_018518.5(MCM10):c.735T>G (p.Cys245Trp)	MCM10 (C245W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124295	NM_018518.5(MCM10):c.329A>G (p.Lys110Arg)	MCM10 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124294	NM_018518.5(MCM10):c.313G>A (p.Ala105Thr)	MCM10 (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124292	NM_018518.5(MCM10):c.286A>G (p.Thr96Ala)	MCM10 (T96A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124291	NM_018518.5(MCM10):c.2593G>A (p.Glu865Lys)	MCM10 (E866K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124290	NM_018518.5(MCM10):c.2530G>A (p.Gly844Arg)	MCM10 (G845R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124289	NM_018518.5(MCM10):c.2284A>G (p.Lys762Glu)	MCM10 (K763E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124288	NM_018518.5(MCM10):c.2049A>T (p.Lys683Asn)	MCM10 (K683N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124287	NM_018518.5(MCM10):c.1663A>T (p.Ile555Phe)	MCM10 (I556F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065122	NM_018518.5(MCM10):c.1553T>C (p.Phe518Ser)	MCM10 (F518S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 80 with or without congenital cardiomyopathy	GUncertain significance
Select item 2688317	NM_018518.5(MCM10):c.2003A>G (p.Lys668Arg)	MCM10 (K668R +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688292	NM_018518.5(MCM10):c.7+24A>T	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688226	NM_018518.5(MCM10):c.1415+114A>G	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688218	NM_018518.5(MCM10):c.2239-76C>T	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688178	NM_018518.5(MCM10):c.1516+72C>T	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688173	NM_018518.5(MCM10):c.931-47G>T	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688158	NM_018518.5(MCM10):c.1285C>T (p.Leu429=)	MCM10	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688157	NM_018518.5(MCM10):c.1098+19G>A	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688107	NM_018518.5(MCM10):c.1746-26G>A	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688099	NM_018518.5(MCM10):c.2238+80G>C	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688028	NM_018518.5(MCM10):c.1216-44A>G	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687951	NM_018518.5(MCM10):c.592+47A>G	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687950	NM_018518.5(MCM10):c.8-38C>T	MCM10	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2684595	GRCh37/hg19 10p14-13(chr10:10175327-13529362)x3	BEND7, CAMK1D +15 more	Copy number gain	not provided	GUncertain significance
Select item 2640317	NM_018518.5(MCM10):c.2525G>A (p.Arg842Gln)	MCM10 (R842Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640316	NM_018518.5(MCM10):c.2355C>T (p.Cys785=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640315	NM_018518.5(MCM10):c.2222C>A (p.Thr741Lys)	MCM10 (T741K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640314	NM_018518.5(MCM10):c.2006G>T (p.Gly669Val)	MCM10 (G669V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640313	NM_018518.5(MCM10):c.1518A>T (p.Gly506=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640312	NM_018518.5(MCM10):c.1113C>T (p.Ile371=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640311	NM_018518.5(MCM10):c.968G>A (p.Arg323His)	MCM10 (R323H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2640310	NM_018518.5(MCM10):c.719C>T (p.Thr240Met)	MCM10 (T240M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640309	NM_018518.5(MCM10):c.108T>C (p.Asn36=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621592	NM_018518.5(MCM10):c.675A>G (p.Ile225Met)	MCM10 (I225M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602620	NM_018518.5(MCM10):c.1355G>A (p.Arg452Gln)	MCM10 (R452Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599332	NM_018518.5(MCM10):c.301C>T (p.Leu101Phe)	MCM10 (L101F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596837	NM_018518.5(MCM10):c.101G>A (p.Arg34Gln)	MCM10 (R34Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595399	NM_018518.5(MCM10):c.174G>C (p.Glu58Asp)	MCM10 (E58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592547	NM_018518.5(MCM10):c.205G>A (p.Asp69Asn)	MCM10 (D69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590088	NM_018518.5(MCM10):c.467G>A (p.Arg156Gln)	MCM10 (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587931	NM_018518.5(MCM10):c.2507G>A (p.Gly836Asp)	MCM10 (G837D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2544303	NM_018518.5(MCM10):c.67G>A (p.Asp23Asn)	MCM10 (D23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538179	NM_018518.5(MCM10):c.757C>T (p.Arg253Trp)	MCM10 (R254W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514173	NM_018518.5(MCM10):c.2573C>T (p.Thr858Ile)	MCM10 (T858I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511560	NM_018518.5(MCM10):c.2552G>A (p.Gly851Asp)	MCM10 (G851D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495896	NM_018518.5(MCM10):c.1867A>G (p.Met623Val)	MCM10 (M623V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493738	NM_018518.5(MCM10):c.2260C>T (p.Arg754Cys)	MCM10 (R754C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487126	NM_018518.5(MCM10):c.2360A>T (p.Tyr787Phe)	MCM10 (Y787F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485326	NM_018518.5(MCM10):c.977C>T (p.Thr326Ile)	MCM10 (T327I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465926	NM_018518.5(MCM10):c.2133G>T (p.Leu711Phe)	MCM10 (L711F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433672	NM_018518.5(MCM10):c.2332C>A (p.Arg778Ser)	MCM10 (R778S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 80 with or without congenital cardiomyopathy	GUncertain significance
Select item 2410003	NM_018518.5(MCM10):c.1048G>A (p.Val350Ile)	MCM10 (V350I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405682	NM_018518.5(MCM10):c.1217G>A (p.Arg406His)	MCM10 (R406H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387211	NM_018518.5(MCM10):c.2333G>A (p.Arg778His)	MCM10 (R779H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374777	NM_018518.5(MCM10):c.1804C>A (p.Pro602Thr)	MCM10 (P603T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364534	NM_018518.5(MCM10):c.670G>T (p.Gly224Trp)	MCM10 (G225W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361894	NM_018518.5(MCM10):c.796A>G (p.Lys266Glu)	MCM10 (K267E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355245	NM_018518.5(MCM10):c.598A>G (p.Lys200Glu)	MCM10 (K200E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312066	NM_018518.5(MCM10):c.706A>G (p.Ser236Gly)	MCM10 (S236G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305510	NM_018518.5(MCM10):c.1064C>A (p.Ala355Asp)	MCM10 (A356D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243937	NM_018518.5(MCM10):c.1604A>G (p.His535Arg)	MCM10 (H536R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207748	NM_018518.5(MCM10):c.410C>T (p.Thr137Ile)	MCM10 (T137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1447308	NC_000010.10:g.(?_12111033)_(13342042_?)dup	CAMK1D, CCDC3 +8 more	Duplication	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077167	NM_018518.5(MCM10):c.764+5G>A	MCM10	Single nucleotide variant (intron variant)	Fetal Cardiomyopathy	GPathogenic
Select item 1077166	NM_018518.5(MCM10):c.236del (p.Gly79fs)	MCM10 (G79fs)	Deletion (frameshift variant)	Fetal Cardiomyopathy	GPathogenic
Select item 1077165	NM_018518.5(MCM10):c.1744C>T (p.Arg582Ter)	MCM10 (R582* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 80 with or without congenital cardiomyopathy	GPathogenic
Select item 1077164	NM_018518.5(MCM10):c.1276C>T (p.Arg426Cys)	MCM10 (R426C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 80 with or without congenital cardiomyopathy	GPathogenic
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 929362	GRCh37/hg19 10p13(chr10:12805430-13306566)x3	CAMK1D, CCDC3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 777190	NM_018518.5(MCM10):c.831T>C (p.Ser277=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776498	NM_018518.5(MCM10):c.8-7C>A	MCM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768348	NM_018518.5(MCM10):c.1622C>T (p.Ala541Val)	MCM10 (A541V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 761730	NM_018518.5(MCM10):c.1380C>T (p.Tyr460=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730168	NM_018518.5(MCM10):c.1590G>A (p.Arg530=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725888	NM_018518.5(MCM10):c.1806C>T (p.Pro602=)	MCM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709266	NM_018518.5(MCM10):c.333G>A (p.Thr111=)	MCM10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 687035	GRCh37/hg19 10p13(chr10:12961671-13207227)x1	CCDC3, MCM10 +1 more	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 583651	NC_000010.11:g.(?_13109123)_(13183100_?)del	LOC108903148, LOC108903149 +5 more	Deletion	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 563781	GRCh37/hg19 10p13(chr10:12802555-14847149)x1	OPTN, BEND7 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394167	GRCh37/hg19 10p13(chr10:12821353-13275585)x3	CAMK1D, CCDC3 +3 more	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic

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