4173[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +417 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 151140	GRCh38/hg38 8q11.21(chr8:47831768-48178799)x1	LOC106903146, LOC129389984 +12 more	Copy number loss	See cases	GUncertain significance
Select item 363190	NM_005914.3(MCM4):c.-754G>A	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363191	NM_005914.3(MCM4):c.-745_-744delAA	LOC106903146, MCM4	Deletion	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363192	NM_005914.3(MCM4):c.-721dup	LOC106903146, MCM4	Duplication	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363193	NM_005914.3(MCM4):c.-701C>A	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363194	NM_005914.3(MCM4):c.-646delG	LOC106903146, MCM4	Deletion	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363195	NM_005914.3(MCM4):c.-501A>G	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363196	NM_005914.3(MCM4):c.-479A>G	MCM4, LOC106903146	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363197	NM_005914.3(MCM4):c.-473G>A	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363198	NM_005914.3(MCM4):c.-453T>C	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363199	NM_005914.3(MCM4):c.-444A>C	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
Select item 363200	NM_005914.3(MCM4):c.-407G>A	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363201	NM_005914.3(MCM4):c.-372G>A	LOC106903146, MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363202	NM_005914.3(MCM4):c.-347C>A	MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363203	NM_005914.3(MCM4):c.-320dup	MCM4	Duplication	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363204	NM_005914.3(MCM4):c.-253C>T	MCM4	Single nucleotide variant	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363205	NM_005914.3(MCM4):c.-205C>T	MCM4	Single nucleotide 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 363206	NM_182746.3(MCM4):c.-74C>T	MCM4	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363207	NM_182746.3(MCM4):c.-68G>T	MCM4	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363208	NM_182746.3(MCM4):c.-65A>T	MCM4	Single nucleotide variant (5 prime UTR variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GLikely benign
Select item 363209	NM_182746.3(MCM4):c.-48G>T	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant)	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 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 363210	NM_182746.3(MCM4):c.-14-50G>A	MCM4, LOC130000338	Single nucleotide variant (intron variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 363211	NM_182746.3(MCM4):c.-14-41C>T	LOC130000338, MCM4	Single nucleotide variant (5 prime UTR variant +1 more)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GBenign
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 1425380	NM_182746.3(MCM4):c.-14-3_70+1del	LOC130000338, MCM4	Deletion (splice donor variant +2 more)	not provided	GUncertain significance
Select item 376841	NM_182746.3(MCM4):c.5C>G (p.Ser2Trp)	MCM4, LOC130000338 (S2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831022	NM_182746.3(MCM4):c.10C>G (p.Pro4Ala)	LOC130000338, MCM4 (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902837	NM_182746.3(MCM4):c.25A>C (p.Ser9Arg)	LOC130000338, MCM4 (S9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362979	NM_182746.3(MCM4):c.29G>T (p.Arg10Leu)	LOC130000338, MCM4 (R10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416681	NM_182746.3(MCM4):c.31C>T (p.Arg11Cys)	LOC130000338, MCM4 (R11C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 626134	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	LOC130000338, MCM4 (R11G)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GUncertain significance
Select item 1547581	NM_182746.3(MCM4):c.33C>T (p.Arg11=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124353	NM_182746.3(MCM4):c.38G>T (p.Ser13Ile)	LOC130000338, MCM4 (S13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2873575	NM_182746.3(MCM4):c.48A>G (p.Gly16=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018534	NM_182746.3(MCM4):c.51G>A (p.Arg17=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713672	NM_182746.3(MCM4):c.55A>C (p.Thr19Pro)	LOC130000338, MCM4 (T19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796673	NM_182746.3(MCM4):c.60C>T (p.Pro20=)	LOC130000338, MCM4	Single nucleotide variant (synonymous variant)	MCM4-related condition +1 more	GLikely benign
Select item 1365753	NM_182746.3(MCM4):c.61G>A (p.Ala21Thr)	LOC130000338, MCM4 (A21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305556	NM_182746.3(MCM4):c.67A>C (p.Thr23Pro)	LOC130000338, MCM4 (T23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2133352	NM_182746.3(MCM4):c.68C>T (p.Thr23Met)	LOC130000338, MCM4 (T23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644919	NM_182746.3(MCM4):c.70+11C>T	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593658	NM_182746.3(MCM4):c.70+12G>C	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769663	NM_182746.3(MCM4):c.70+14G>A	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940344	NM_182746.3(MCM4):c.70+18G>A	LOC130000338, MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658593	NM_182746.3(MCM4):c.71-94C>T	MCM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1916308	NM_182746.3(MCM4):c.71-19C>T	MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635416	NM_182746.3(MCM4):c.71-16T>C	MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565867	NM_182746.3(MCM4):c.71-13TG[2]	MCM4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1533674	NM_182746.3(MCM4):c.71-8G>C	MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796692	NM_182746.3(MCM4):c.71-6C>T	MCM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 37234	NM_182746.3(MCM4):c.71-2A>G	MCM4	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1493183	NM_182746.3(MCM4):c.71C>T (p.Pro24Leu)	MCM4 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438631	NM_182746.3(MCM4):c.77G>A (p.Ser26Asn)	MCM4 (S26N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056229	NM_182746.3(MCM4):c.89G>A (p.Arg30Lys)	MCM4 (R30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043748	NM_182746.3(MCM4):c.98C>T (p.Pro33Leu)	MCM4 (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1444895	NM_182746.3(MCM4):c.110G>A (p.Arg37His)	MCM4 (R37H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1523153	NM_182746.3(MCM4):c.128C>T (p.Thr43Ile)	MCM4 (T43I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1543097	NM_182746.3(MCM4):c.129C>T (p.Thr43=)	MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432955	NM_182746.3(MCM4):c.135G>A (p.Thr45=)	MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761723	NM_182746.3(MCM4):c.141G>A (p.Glu47=)	MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264439	NM_182746.3(MCM4):c.148C>T (p.Pro50Ser)	MCM4 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1414817	NM_182746.3(MCM4):c.151A>T (p.Met51Leu)	MCM4 (M51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010715	NM_182746.3(MCM4):c.152T>A (p.Met51Lys)	MCM4 (M51K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956602	NM_182746.3(MCM4):c.153G>A (p.Met51Ile)	MCM4 (M51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048769	NM_182746.3(MCM4):c.155C>T (p.Pro52Leu)	MCM4 (P52L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 908952	NM_182746.3(MCM4):c.157A>G (p.Thr53Ala)	MCM4 (T53A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 363212	NM_182746.3(MCM4):c.159C>T (p.Thr53=)	MCM4	Single nucleotide variant (synonymous variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2811332	NM_182746.3(MCM4):c.161C>T (p.Ser54Leu)	MCM4 (S54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2328784	NM_182746.3(MCM4):c.167G>A (p.Gly56Glu)	MCM4 (G56E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1444672	NM_182746.3(MCM4):c.169G>A (p.Val57Met)	MCM4 (V57M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433638	NM_182746.3(MCM4):c.172G>C (p.Asp58His)	MCM4 (D58H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446393	NM_182746.3(MCM4):c.173A>G (p.Asp58Gly)	MCM4 (D58G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410630	NM_182746.3(MCM4):c.184C>T (p.Pro62Ser)	MCM4 (P62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441411	NM_182746.3(MCM4):c.185C>G (p.Pro62Arg)	MCM4 (P62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363213	NM_182746.3(MCM4):c.187G>T (p.Ala63Ser)	MCM4 (A63S)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	GUncertain significance
Select item 1347057	NM_182746.3(MCM4):c.190G>A (p.Ala64Thr)	MCM4 (A64T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367917	NM_182746.3(MCM4):c.196G>C (p.Asp66His)	MCM4 (D66H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363214	NM_182746.3(MCM4):c.199G>A (p.Val67Met)	MCM4 (V67M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1364827	NM_182746.3(MCM4):c.220C>G (p.Gln74Glu)	MCM4 (Q74E)	Single nucleotide variant (missense variant)	not provided	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 1964569	NM_182746.3(MCM4):c.222A>G (p.Gln74=)	MCM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509961	NM_182746.3(MCM4):c.227A>G (p.His76Arg)	MCM4 (H76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005040	NM_182746.3(MCM4):c.235G>C (p.Ala79Pro)	MCM4 (A79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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