ClinVar for MedGen (Select 351256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1944628	NM_182746.3(MCM4):c.732CTT[1] (p.Phe246del)	MCM4 (F246del)	Microsatellite (inframe_deletion)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 1033043	NM_182746.3(MCM4):c.2101C>T (p.Arg701Trp)	MCM4 (R701W)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 1033042	NM_182746.3(MCM4):c.1661G>A (p.Arg554Lys)	MCM4 (R554K)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 1028961	NM_182746.3(MCM4):c.311G>A (p.Arg104Lys)	MCM4 (R104K)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 1013830	NM_182746.3(MCM4):c.1784C>T (p.Thr595Ile)	MCM4 (T595I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 992551	NM_182746.3(MCM4):c.2020G>A (p.Glu674Lys)	MCM4 (E674K)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 930225	NM_182746.3(MCM4):c.220C>T (p.Gln74Ter)	MCM4 (Q74*)	Single nucleotide variant (nonsense)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GLikely pathogenic
Select item 912050	NM_182746.3(MCM4):c.*1266G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 912049	NM_182746.3(MCM4):c.*1234T>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 912048	NM_182746.3(MCM4):c.*1140G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911995	NM_182746.3(MCM4):c.*37C>T	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911994	NM_182746.3(MCM4):c.2531T>C (p.Leu844Pro)	MCM4 (L844P)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911993	NM_182746.3(MCM4):c.2341G>A (p.Val781Met)	MCM4 (V781M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911992	NM_182746.3(MCM4):c.2296C>T (p.Arg766Trp)	MCM4 (R766W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 911991	NM_182746.3(MCM4):c.2257G>C (p.Val753Leu)	MCM4 (V753L)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 911936	NM_182746.3(MCM4):c.899A>G (p.Gln300Arg)	MCM4 (Q300R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 911895	NM_182746.3(MCM4):c.-15+55C>T	MCM4, LOC130000338	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911894	NM_182746.3(MCM4):c.-33A>G	MCM4, LOC130000338	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 911893	NM_182746.3(MCM4):c.-77G>A	MCM4	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 910829	NM_182746.3(MCM4):c.*850T>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 910828	NM_182746.3(MCM4):c.*842G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 910827	NM_182746.3(MCM4):c.*819C>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 910776	NM_182746.3(MCM4):c.2102G>A (p.Arg701Gln)	MCM4 (R701Q)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GConflicting classifications of pathogenicity
Select item 910775	NM_182746.3(MCM4):c.2082G>C (p.Ala694=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GBenign/Likely benign
Select item 910774	NM_182746.3(MCM4):c.2012A>G (p.Tyr671Cys)	MCM4 (Y671C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 910773	NM_182746.3(MCM4):c.1973A>G (p.Tyr658Cys)	MCM4 (Y658C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 910719	NM_182746.3(MCM4):c.848T>C (p.Ile283Thr)	MCM4 (I283T)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 910718	NM_182746.3(MCM4):c.693+7A>G	MCM4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910717	NM_182746.3(MCM4):c.693G>A (p.Gln231=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 910716	NM_182746.3(MCM4):c.589C>T (p.Leu197Phe)	MCM4 (L197F)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909929	NM_182746.3(MCM4):c.*453A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909928	NM_182746.3(MCM4):c.*443G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909927	NM_182746.3(MCM4):c.*357A>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909926	NM_182746.3(MCM4):c.*315G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909878	NM_182746.3(MCM4):c.1929-6T>C	MCM4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 909877	NM_182746.3(MCM4):c.1728C>T (p.Phe576=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GConflicting classifications of pathogenicity
Select item 909815	NM_182746.3(MCM4):c.502-8A>G	MCM4	Single nucleotide variant (intron variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909814	NM_182746.3(MCM4):c.253G>T (p.Asp85Tyr)	MCM4 (D85Y)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 909813	NM_182746.3(MCM4):c.240C>T (p.Ile80=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GConflicting classifications of pathogenicity
Select item 909812	NM_182746.3(MCM4):c.235+4C>G	MCM4	Single nucleotide variant (intron variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909074	NM_182746.3(MCM4):c.*197T>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 909073	NM_182746.3(MCM4):c.*148A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 909072	NM_182746.3(MCM4):c.*109T>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909071	NM_182746.3(MCM4):c.*56G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909014	NM_182746.3(MCM4):c.1511T>C (p.Ile504Thr)	MCM4 (I504T)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909013	NM_182746.3(MCM4):c.1103A>C (p.His368Pro)	MCM4 (H368P)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 909012	NM_182746.3(MCM4):c.1097C>T (p.Thr366Ile)	MCM4 (T366I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 908952	NM_182746.3(MCM4):c.157A>G (p.Thr53Ala)	MCM4 (T53A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 908951	NM_182746.3(MCM4):c.99C>T (p.Pro33=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908950	NM_182746.3(MCM4):c.-14-39G>A	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 773909	NM_182746.3(MCM4):c.1578C>T (p.Leu526=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 756428	NM_182746.3(MCM4):c.2172G>A (p.Arg724=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718626	NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)	MCM4 (S469T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 713504	NM_182746.3(MCM4):c.2365+4C>T	MCM4	Single nucleotide variant (intron variant)	MCM4-related condition +2 more	GBenign/Likely benign
Select item 712807	NM_182746.3(MCM4):c.1053+4C>T	MCM4	Single nucleotide variant (intron variant)	MCM4-related condition +2 more	GBenign
Select item 632521	NM_182746.3(MCM4):c.686dup (p.Tyr229Ter)	MCM4 (Y229*)	Duplication (nonsense)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 626138	NM_182746.3(MCM4):c.604G>A (p.Val202Ile)	MCM4 (V202I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 626134	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	LOC130000338, MCM4 (R11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 522231	NM_182746.3(MCM4):c.2064G>A (p.Lys688=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GBenign/Likely benign
Select item 363256	NM_182746.3(MCM4):c.*1305del	MCM4	Deletion (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GLikely benign
Select item 363255	NM_182746.3(MCM4):c.*1256A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 363254	NM_182746.3(MCM4):c.*1134A>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363253	NM_182746.3(MCM4):c.*955A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363252	NM_182746.3(MCM4):c.*882G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363251	NM_182746.3(MCM4):c.*877G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363250	NM_182746.3(MCM4):c.*871G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GLikely benign
Select item 363249	NM_182746.3(MCM4):c.*537T>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363248	NM_182746.3(MCM4):c.*507del	MCM4	Deletion (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 363247	NM_182746.3(MCM4):c.*484del	MCM4	Deletion (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363246	NM_182746.3(MCM4):c.*438A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363245	NM_182746.3(MCM4):c.*387T>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363244	NM_182746.3(MCM4):c.*358T>C	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 363243	NM_182746.3(MCM4):c.*255A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363242	NM_182746.3(MCM4):c.*214G>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 363241	NM_182746.3(MCM4):c.*213C>T	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363240	NM_182746.3(MCM4):c.*125A>G	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363239	NM_182746.3(MCM4):c.*71C>A	MCM4	Single nucleotide variant (3 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 363238	NM_182746.3(MCM4):c.1948T>A (p.Leu650Met)	MCM4 (L650M)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GBenign
Select item 363237	NM_182746.3(MCM4):c.1844C>G (p.Ala615Gly)	MCM4 (A615G)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363236	NM_182746.3(MCM4):c.1829G>A (p.Arg610His)	MCM4 (R610H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363235	NM_182746.3(MCM4):c.1659A>G (p.Thr553=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 363234	NM_182746.3(MCM4):c.1578C>G (p.Leu526=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363233	NM_182746.3(MCM4):c.1569G>A (p.Val523=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GBenign/Likely benign
Select item 363232	NM_182746.3(MCM4):c.1419T>G (p.His473Gln)	MCM4 (H473Q)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363231	NM_182746.3(MCM4):c.1264C>T (p.Arg422Trp)	MCM4 (R422W)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 363230	NM_182746.3(MCM4):c.1209A>G (p.Pro403=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 363229	NM_182746.3(MCM4):c.1175-7C>T	MCM4	Single nucleotide variant (intron variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GConflicting classifications of pathogenicity
Select item 363228	NM_182746.3(MCM4):c.978T>C (p.Ser326=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363227	NM_182746.3(MCM4):c.961C>T (p.Arg321Cys)	MCM4 (R321C)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GConflicting classifications of pathogenicity
Select item 363226	NM_182746.3(MCM4):c.940C>T (p.Arg314Trp)	MCM4 (R314W)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GUncertain significance
Select item 363225	NM_182746.3(MCM4):c.891C>T (p.Pro297=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GConflicting classifications of pathogenicity
Select item 363224	NM_182746.3(MCM4):c.859G>A (p.Gly287Ser)	MCM4 (G287S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 363223	NM_182746.3(MCM4):c.858C>T (p.Ser286=)	MCM4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 363222	NM_182746.3(MCM4):c.833-14T>C	MCM4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 363221	NM_182746.3(MCM4):c.811A>G (p.Met271Val)	MCM4 (M271V)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GUncertain significance
Select item 363220	NM_182746.3(MCM4):c.743G>A (p.Arg248His)	MCM4 (R248H)	Single nucleotide variant (missense variant)	MCM4-related condition +2 more	GBenign/Likely benign
Select item 363219	NM_182746.3(MCM4):c.715A>G (p.Met239Val)	MCM4 (M239V)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363218	NM_182746.3(MCM4):c.487A>G (p.Lys163Glu)	MCM4 (K163E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363217	NM_182746.3(MCM4):c.440G>A (p.Gly147Asp)	MCM4 (G147D)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363216	NM_182746.3(MCM4):c.241C>T (p.Pro81Ser)	MCM4 (P81S)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance

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