6950[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 2337337	NM_005916.5(MCM7):c.2104G>C (p.Glu702Gln)	MCM7 (E526Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294578	NM_005916.5(MCM7):c.2071C>T (p.Pro691Ser)	MCM7 (P515S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295518	NM_005916.5(MCM7):c.2059C>T (p.Arg687Cys)	MCM7 (R511C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231902	NM_005916.5(MCM7):c.2041G>C (p.Glu681Gln)	MCM7 (E505Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595516	NM_005916.5(MCM7):c.2037G>C (p.Glu679Asp)	MCM7 (E503D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124388	NM_005916.5(MCM7):c.1993G>A (p.Val665Ile)	MCM7 (V665I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411259	NM_005916.5(MCM7):c.1970C>T (p.Pro657Leu)	MCM7 (P657L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288280	NM_005916.5(MCM7):c.1964A>G (p.Gln655Arg)	MCM7 (Q479R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124387	NM_005916.5(MCM7):c.1959G>A (p.Arg653=)	MCM7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3124386	NM_005916.5(MCM7):c.1897G>A (p.Ala633Thr)	MCM7 (A457T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612806	NM_005916.5(MCM7):c.1892A>T (p.Asn631Ile)	MCM7 (N631I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605061	NM_005916.5(MCM7):c.1870G>A (p.Val624Met)	MCM7 (V448M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768184	NM_005916.5(MCM7):c.1866G>A (p.Val622=)	MCM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124385	NM_005916.5(MCM7):c.1792G>A (p.Ala598Thr)	MCM7 (A422T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774658	NM_005916.5(MCM7):c.1773G>C (p.Glu591Asp)	MCM7 (E415D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622517	NM_005916.5(MCM7):c.1699C>G (p.Arg567Gly)	MCM7 (R567G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412134	NM_005916.5(MCM7):c.1687A>G (p.Ile563Val)	MCM7 (I387V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124384	NM_005916.5(MCM7):c.1681C>T (p.Arg561Cys)	MCM7 (R385C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473738	NM_005916.5(MCM7):c.1675A>C (p.Met559Leu)	MCM7 (M383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124383	NM_005916.5(MCM7):c.1643C>G (p.Pro548Arg)	MCM7 (P372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237333	NM_005916.5(MCM7):c.1633C>T (p.Arg545Trp)	MCM7 (R369W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1173058	NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys)	MCM7 (Y363C +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome	GPathogenic
Select item 3124382	NM_005916.5(MCM7):c.1609A>G (p.Ile537Val)	MCM7 (I361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517764	NM_005916.5(MCM7):c.1586A>G (p.Asn529Ser)	MCM7 (N529S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124381	NM_005916.5(MCM7):c.1580G>A (p.Arg527Gln)	MCM7 (R351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1173070	NM_005916.5(MCM7):c.1579C>T (p.Arg527Ter)	MCM7 (R351* +1 more)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome	GPathogenic
Select item 738639	NM_005916.5(MCM7):c.1579C>A (p.Arg527=)	MCM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124380	NM_005916.5(MCM7):c.1564C>G (p.Gln522Glu)	MCM7 (Q522E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229315	NM_005916.5(MCM7):c.1516C>G (p.Gln506Glu)	MCM7 (Q330E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509249	NM_005916.5(MCM7):c.1495C>T (p.Arg499Cys)	MCM7 (R499C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709235	NM_005916.5(MCM7):c.1417G>A (p.Gly473Ser)	MCM7 (G473S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 716084	NM_005916.5(MCM7):c.1377C>T (p.His459=)	MCM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589272	NM_005916.5(MCM7):c.1363C>T (p.Arg455Cys)	MCM7 (R279C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272493	NM_005916.5(MCM7):c.1317G>T (p.Gln439His)	MCM7 (Q263H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595904	NM_005916.5(MCM7):c.1267G>C (p.Val423Leu)	MCM7 (V247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293693	NM_005916.5(MCM7):c.1262A>G (p.Asp421Gly)	MCM7 (D245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124379	NM_005916.5(MCM7):c.1259G>C (p.Arg420Thr)	MCM7 (R244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708672	NM_005916.5(MCM7):c.1245G>A (p.Thr415=)	MCM7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124378	NM_005916.5(MCM7):c.1219C>T (p.Arg407Trp)	MCM7 (R231W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244978	NM_005916.5(MCM7):c.1213A>G (p.Thr405Ala)	MCM7 (T405A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205221	NM_005916.5(MCM7):c.1128C>G (p.Asn376Lys)	MCM7 (N376K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376486	NM_005916.5(MCM7):c.1045G>A (p.Asp349Asn)	MCM7 (D349N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492239	NM_005916.5(MCM7):c.1042G>C (p.Glu348Gln)	MCM7 (E348Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590239	NM_005916.5(MCM7):c.1018A>G (p.Ile340Val)	MCM7 (I340V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539632	NM_005916.5(MCM7):c.974G>A (p.Arg325Lys)	MCM7 (R325K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124396	NM_005916.5(MCM7):c.904C>T (p.Arg302Trp)	MCM7 (R126W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271440	NM_005916.5(MCM7):c.899C>T (p.Ala300Val)	MCM7 (A124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124395	NM_005916.5(MCM7):c.878T>G (p.Leu293Arg)	MCM7 (L293R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559924	NM_005916.5(MCM7):c.872G>T (p.Gly291Val)	MCM7 (G115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343192	NM_005916.5(MCM7):c.868C>G (p.Gln290Glu)	MCM7 (Q114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293691	NM_005916.5(MCM7):c.844C>T (p.Arg282Cys)	MCM7 (R106C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720152	NM_005916.5(MCM7):c.841C>T (p.Leu281=)	MCM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360051	NM_005916.5(MCM7):c.805G>A (p.Asp269Asn)	MCM7 (D269N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1173069	NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	MCM7 (G259A +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +9 more	GPathogenic
Select item 2460897	NM_005916.5(MCM7):c.773A>G (p.Glu258Gly)	MCM7 (E258G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124394	NM_005916.5(MCM7):c.752G>A (p.Arg251His)	MCM7 (R75H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525222	NM_005916.5(MCM7):c.721A>G (p.Ser241Gly)	MCM7 (S65G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348096	NM_005916.5(MCM7):c.613A>G (p.Met205Val)	MCM7 (M205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124393	NM_005916.5(MCM7):c.491G>A (p.Arg164His)	MCM7 (R164H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3124392	NM_005916.5(MCM7):c.490C>T (p.Arg164Cys)	MCM7 (R164C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324414	NM_005916.5(MCM7):c.477G>C (p.Lys159Asn)	MCM7 (K159N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2412105	NM_005916.5(MCM7):c.463G>T (p.Asp155Tyr)	MCM7 (D155Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3293690	NM_005916.5(MCM7):c.457C>T (p.Arg153Trp)	MCM7 (R153W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213742	NM_005916.5(MCM7):c.422C>T (p.Pro141Leu)	MCM7 (P141L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1173057	NM_005916.5(MCM7):c.415C>T (p.Gln139Ter)	MCM7 (Q139*)	Single nucleotide variant (5 prime UTR variant +1 more)	Meier-Gorlin syndrome	GPathogenic
Select item 3293696	NM_005916.5(MCM7):c.394C>T (p.Arg132Cys)	MCM7 (R132C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341251	NM_005916.5(MCM7):c.385G>C (p.Glu129Gln)	MCM7 (E129Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2281557	NM_005916.5(MCM7):c.359G>C (p.Arg120Pro)	MCM7 (R120P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527870	NM_005916.5(MCM7):c.356T>A (p.Val119Asp)	MCM7 (V119D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2526072	NM_005916.5(MCM7):c.350G>A (p.Gly117Glu)	MCM7 (G117E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 778352	NM_005916.5(MCM7):c.341G>A (p.Arg114Gln)	MCM7 (R114Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2349744	NM_005916.5(MCM7):c.325A>G (p.Met109Val)	MCM7 (M109V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365694	NM_005916.5(MCM7):c.319C>G (p.Leu107Val)	MCM7 (L107V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3124391	NM_005916.5(MCM7):c.301G>A (p.Val101Ile)	MCM7 (V101I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3293695	NM_005916.5(MCM7):c.257C>T (p.Pro86Leu)	MCM7 (P86L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3124390	NM_005916.5(MCM7):c.256C>T (p.Pro86Ser)	MCM7 (P86S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2361895	NM_005916.5(MCM7):c.238G>A (p.Ala80Thr)	MCM7 (A80T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462671	NM_005916.5(MCM7):c.214C>T (p.Arg72Cys)	MCM7 (R72C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222166	NM_005916.5(MCM7):c.169G>A (p.Glu57Lys)	MCM7 (E57K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224850	NM_005916.5(MCM7):c.137T>C (p.Val46Ala)	MCM7 (V46A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1804007	NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)	MCM7 (Q45*)	Single nucleotide variant (5 prime UTR variant +1 more)	Astigmatism +8 more	GPathogenic
Select item 2516607	NM_005916.5(MCM7):c.130G>A (p.Glu44Lys)	MCM7 (E44K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3293694	NM_005916.5(MCM7):c.108G>T (p.Gln36His)	MCM7 (Q36H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2472509	NM_005916.5(MCM7):c.80G>A (p.Gly27Glu)	MCM7 (G27E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622214	NM_005916.5(MCM7):c.79G>A (p.Gly27Arg)	MCM7 (G27R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1290038	NC_000007.14:g.100101167C>G	AP4M1, MCM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2294804	NM_005916.5(MCM7):c.27G>T (p.Glu9Asp)	AP4M1, MCM7 (E9D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3124389	NM_005916.5(MCM7):c.19G>A (p.Ala7Thr)	AP4M1, MCM7 (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245786	NC_000007.13:g.(?_99699407)_(99704283_?)del	AP4M1, MCM7	Deletion	Hereditary spastic paraplegia 50	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic

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