84515[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 1270703	NM_032485.6(MCM8):c.-5-7C>T	MCM8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2246212	NM_032485.6(MCM8):c.26G>T (p.Gly9Val)	MCM8 (G9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 812132	NM_032485.6(MCM8):c.89A>C (p.Lys30Thr)	MCM8 (K30T)	Single nucleotide variant (missense variant)	Premature ovarian failure 10	GUncertain significance
Select item 2569675	NM_032485.6(MCM8):c.128C>G (p.Thr43Ser)	MCM8 (T43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708992	NM_032485.6(MCM8):c.134G>A (p.Gly45Glu)	MCM8 (G45E)	Single nucleotide variant (missense variant)	Premature ovarian failure 10	GUncertain significance
Select item 2604559	NM_032485.6(MCM8):c.169C>T (p.Leu57Phe)	MCM8 (L57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404812	NM_032485.6(MCM8):c.173C>T (p.Ser58Leu)	MCM8 (S58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372528	NM_032485.6(MCM8):c.175A>G (p.Thr59Ala)	MCM8 (T59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357804	NM_032485.6(MCM8):c.190T>G (p.Ser64Ala)	MCM8 (S64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741420	NM_032485.6(MCM8):c.261C>T (p.Ser87=)	MCM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 373125	NM_032485.6(MCM8):c.278_281del (p.Ile93fs)	MCM8 (I93fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 784405	NM_032485.6(MCM8):c.292G>C (p.Ala98Pro)	MCM8 (A98P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2372711	NM_032485.6(MCM8):c.319A>G (p.Ile107Val)	MCM8 (I107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790768	NM_032485.6(MCM8):c.325T>G (p.Leu109Val)	MCM8 (L109V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2172278	NM_032485.6(MCM8):c.351_354del (p.Lys118fs)	MCM8 (K118fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3124407	NM_032485.6(MCM8):c.412A>G (p.Ile138Val)	MCM8 (I138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775586	NM_032485.6(MCM8):c.414A>G (p.Ile138Met)	MCM8 (I138M)	Single nucleotide variant (missense variant)	MCM8-related disorder +1 more	GBenign
Select item 708742	NM_032485.6(MCM8):c.421A>G (p.Ile141Val)	MCM8 (I141V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 161191	NM_032485.6(MCM8):c.446C>G (p.Pro149Arg)	MCM8 (P149R)	Single nucleotide variant (missense variant)	Premature ovarian failure 10	GPathogenic
Select item 714894	NM_032485.6(MCM8):c.464G>A (p.Cys155Tyr)	MCM8 (C155Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1328959	NM_032485.6(MCM8):c.482A>C (p.His161Pro)	MCM8 (H161P)	Single nucleotide variant (missense variant)	Azoospermia	GPathogenic
Select item 2517039	NM_032485.6(MCM8):c.532C>G (p.Gln178Glu)	MCM8 (Q178E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783858	NM_032485.6(MCM8):c.548A>G (p.Asn183Ser)	MCM8 (N183S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3124408	NM_032485.6(MCM8):c.554G>C (p.Gly185Ala)	MCM8 (G185A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278946	NM_032485.6(MCM8):c.575C>A (p.Pro192Gln)	MCM8 (P192Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291527	NM_032485.6(MCM8):c.637A>G (p.Asn213Asp)	MCM8 (N213D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530369	NM_032485.6(MCM8):c.680G>A (p.Arg227His)	MCM8 (R227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124409	NM_032485.6(MCM8):c.682G>T (p.Val228Phe)	MCM8 (V228F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329115	NM_032485.6(MCM8):c.685A>G (p.Ser229Gly)	MCM8 (S229G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2419952	NM_032485.6(MCM8):c.790-2A>G	MCM8	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2317150	NM_032485.6(MCM8):c.802G>A (p.Val268Met)	MCM8 (V268M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039694	NM_032485.6(MCM8):c.832C>T (p.Arg278Cys)	MCM8 (R278C)	Single nucleotide variant (missense variant)	MCM8-related disorder	GLikely benign
Select item 784406	NM_032485.6(MCM8):c.844C>T (p.Leu282Phe)	MCM8 (L282F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722277	NM_032485.6(MCM8):c.875+7G>A	MCM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2468940	NM_032485.6(MCM8):c.917G>A (p.Arg306Gln)	MCM8 (R306Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 812137	NM_032485.6(MCM8):c.925C>T (p.Arg309Ter)	MCM8 (R309*)	Single nucleotide variant (nonsense)	Premature ovarian failure 10	GPathogenic
Select item 3039153	NM_032485.6(MCM8):c.954T>C (p.Asp318=)	MCM8	Single nucleotide variant (synonymous variant)	MCM8-related disorder	GBenign
Select item 3124410	NM_032485.6(MCM8):c.955C>T (p.Leu319Phe)	MCM8 (L319F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806488	NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter)	MCM8 (R345*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 10	GConflicting classifications of pathogenicity
Select item 769994	NM_032485.6(MCM8):c.1092T>C (p.Asn364=)	MCM8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560000	NM_032485.6(MCM8):c.1096A>C (p.Lys366Gln)	MCM8 (K350Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531904	NM_032485.6(MCM8):c.1124A>G (p.Asp375Gly)	MCM8 (D359G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463046	NM_032485.6(MCM8):c.1319A>G (p.Asn440Ser)	MCM8 (N480S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 812133	NM_032485.6(MCM8):c.1330A>G (p.Ile444Val)	MCM8 (I428V +2 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 10	GUncertain significance
Select item 2271207	NM_032485.6(MCM8):c.1340A>C (p.Asp447Ala)	MCM8 (D447A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2627933	NM_032485.6(MCM8):c.1404C>A (p.Cys468Ter)	MCM8 (C421* +3 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 10	GLikely pathogenic
Select item 2251019	NM_032485.6(MCM8):c.1429G>A (p.Val477Ile)	MCM8 (V461I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208811	NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491fs)	MCM8 (L531fs +3 more)	Insertion (frameshift variant)	Premature ovarian failure 10	GPathogenic
Select item 2275382	NM_032485.6(MCM8):c.1511C>T (p.Ala504Val)	MCM8 (A488V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124397	NM_032485.6(MCM8):c.1604A>G (p.Glu535Gly)	MCM8 (E575G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400389	NM_032485.6(MCM8):c.1669A>G (p.Ile557Val)	MCM8 (I510V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124398	NM_032485.6(MCM8):c.1687G>C (p.Val563Leu)	MCM8 (V516L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2068205	NM_032485.6(MCM8):c.1735dup (p.Met579fs)	MCM8 (M532fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2084654	NM_032485.6(MCM8):c.1734-2A>G	MCM8	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2226323	NM_032485.6(MCM8):c.1738G>A (p.Gly580Arg)	MCM8 (G533R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124399	NM_032485.6(MCM8):c.1742G>A (p.Ser581Asn)	MCM8 (S534N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368490	NM_032485.6(MCM8):c.1772T>C (p.Phe591Ser)	MCM8 (F544S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259399	NM_032485.6(MCM8):c.1870A>G (p.Thr624Ala)	MCM8 (T624A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456812	NM_032485.6(MCM8):c.1890T>A (p.Ser630Arg)	MCM8 (S583R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124400	NM_032485.6(MCM8):c.1940C>T (p.Ser647Leu)	MCM8 (S687L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1214009	NM_032485.6(MCM8):c.1953+1G>C	MCM8	Single nucleotide variant (splice donor variant)	Premature ovarian failure 10	GLikely pathogenic
Select item 208810	NM_032485.6(MCM8):c.1954-1G>A	MCM8	Single nucleotide variant (splice acceptor variant)	Premature ovarian failure 10	GPathogenic
Select item 3124402	NM_032485.6(MCM8):c.1955T>G (p.Val652Gly)	MCM8 (V636G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388962	NM_032485.6(MCM8):c.2020C>T (p.Arg674Trp)	MCM8 (R714W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124403	NM_032485.6(MCM8):c.2030T>C (p.Val677Ala)	MCM8 (V677A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339685	NM_032485.6(MCM8):c.2050G>C (p.Glu684Gln)	MCM8 (E684Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466779	NM_032485.6(MCM8):c.2059C>G (p.Arg687Gly)	MCM8 (R727G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049848	NM_032485.6(MCM8):c.2059C>T (p.Arg687Ter)	MCM8 (R640* +3 more)	Single nucleotide variant (nonsense)	Premature ovarian failure 10	GPathogenic
Select item 3035203	NM_032485.6(MCM8):c.2060G>A (p.Arg687Gln)	MCM8 (R640Q +3 more)	Single nucleotide variant (missense variant)	MCM8-related disorder	GBenign
Select item 2280590	NM_032485.6(MCM8):c.2122A>G (p.Ile708Val)	MCM8 (I708V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788338	NM_032485.6(MCM8):c.2149A>G (p.Ile717Val)	MCM8 (I757V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2354302	NM_032485.6(MCM8):c.2203G>C (p.Glu735Gln)	MCM8 (E719Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784407	NM_032485.6(MCM8):c.2208C>T (p.Asp736=)	MCM8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2481788	NM_032485.6(MCM8):c.2258C>G (p.Ser753Cys)	MCM8, MCM8-AS1 (S737C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038586	NM_032485.6(MCM8):c.2291C>T (p.Ser764Phe)	MCM8, MCM8-AS1 (S717F +3 more)	Single nucleotide variant (missense variant)	MCM8-related disorder	GLikely benign
Select item 3124404	NM_032485.6(MCM8):c.2317A>G (p.Arg773Gly)	MCM8, MCM8-AS1 (R757G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601930	NM_032485.6(MCM8):c.2333G>C (p.Arg778Thr)	MCM8, MCM8-AS1 (R778T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204693	NM_032485.6(MCM8):c.2374A>G (p.Asn792Asp)	MCM8, MCM8-AS1 (N745D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124405	NM_032485.6(MCM8):c.2429A>G (p.Gln810Arg)	MCM8, MCM8-AS1 (Q850R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330888	NM_032485.6(MCM8):c.2453T>C (p.Ile818Thr)	MCM8, MCM8-AS1 (I771T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307030	NM_032485.6(MCM8):c.2470C>T (p.Gln824Ter)	MCM8, MCM8-AS1 (Q777* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3124406	NM_032485.6(MCM8):c.2486A>G (p.Lys829Arg)	MCM8, MCM8-AS1 (K782R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2427039	NC_000020.10:g.(?_5896972)_(6012016_?)del	CHGB, CRLS1 +2 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance

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