4174[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 374

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 2173928	NM_006739.4(MCM5):c.6G>A (p.Ser2=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468224	NM_006739.4(MCM5):c.13G>A (p.Asp5Asn)	MCM5 (D5N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573861	NM_006739.4(MCM5):c.36C>T (p.Ser12=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480570	NM_006739.4(MCM5):c.38A>G (p.Asp13Gly)	MCM5 (D13G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1932861	NM_006739.4(MCM5):c.39C>T (p.Asp13=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714174	NM_006739.4(MCM5):c.42C>T (p.Ser14=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742690	NM_006739.4(MCM5):c.62C>T (p.Ala21Val)	MCM5 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974774	NM_006739.4(MCM5):c.63C>A (p.Ala21=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985086	NM_006739.4(MCM5):c.79C>G (p.Arg27Gly)	MCM5 (R27G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059300	NM_006739.4(MCM5):c.83A>C (p.Lys28Thr)	MCM5 (K28T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2764924	NM_006739.4(MCM5):c.87G>T (p.Ser29=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071297	NM_006739.4(MCM5):c.111G>A (p.Glu37=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720704	NM_006739.4(MCM5):c.116T>G (p.Leu39Arg)	MCM5 (L39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406715	NM_006739.4(MCM5):c.128G>T (p.Arg43Leu)	MCM5 (R43L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955977	NM_006739.4(MCM5):c.133_135del (p.Gly45del)	MCM5 (G45del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2874818	NM_006739.4(MCM5):c.141C>T (p.Asp47=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481250	NM_006739.4(MCM5):c.151T>C (p.Phe51Leu)	MCM5 (F51L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2550064	NM_006739.4(MCM5):c.155C>T (p.Thr52Ile)	MCM5 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770676	NM_006739.4(MCM5):c.167+7C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1961387	NM_006739.4(MCM5):c.167+8T>C	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568462	NM_006739.4(MCM5):c.167+9C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107286	NM_006739.4(MCM5):c.167+10C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795485	NM_006739.4(MCM5):c.167+16G>T	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963641	NM_006739.4(MCM5):c.167+19C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529263	NM_006739.4(MCM5):c.168-15A>G	MCM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2001694	NM_006739.4(MCM5):c.168-14T>C	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518694	NM_006739.4(MCM5):c.168-3C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2273242	NM_006739.4(MCM5):c.190A>C (p.Asn64His)	MCM5 (N64H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999389	NM_006739.4(MCM5):c.198G>T (p.Gly66=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183110	NM_006739.4(MCM5):c.201G>T (p.Glu67Asp)	MCM5 (E67D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592584	NM_006739.4(MCM5):c.204C>T (p.Tyr68=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718414	NM_006739.4(MCM5):c.227A>T (p.Asp76Val)	MCM5 (D76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976121	NM_006739.4(MCM5):c.237C>G (p.Ser79Arg)	MCM5 (S79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012488	NM_006739.4(MCM5):c.243T>A (p.Asp81Glu)	MCM5 (D81E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998001	NM_006739.4(MCM5):c.255C>T (p.Ala85=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907095	NM_006739.4(MCM5):c.256G>A (p.Asp86Asn)	MCM5 (D86N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997374	NM_006739.4(MCM5):c.267C>T (p.Tyr89=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503647	NM_006739.4(MCM5):c.272A>C (p.Gln91Pro)	MCM5 (Q91P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923452	NM_006739.4(MCM5):c.294+7G>A	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599158	NM_006739.4(MCM5):c.294+19C>A	MCM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1636014	NM_006739.4(MCM5):c.295-17C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610400	NM_006739.4(MCM5):c.295-10C>T	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502460	NM_006739.4(MCM5):c.304G>C (p.Ala102Pro)	MCM5 (A102P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3124363	NM_006739.4(MCM5):c.305C>T (p.Ala102Val)	MCM5 (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1370629	NM_006739.4(MCM5):c.316G>C (p.Val106Leu)	MCM5 (V106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084264	NM_006739.4(MCM5):c.317T>C (p.Val106Ala)	MCM5 (V106A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715126	NM_006739.4(MCM5):c.327G>A (p.Glu109=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571810	NM_006739.4(MCM5):c.335G>A (p.Arg112Gln)	MCM5 (R112Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2786107	NM_006739.4(MCM5):c.347C>T (p.Ser116Phe)	MCM5 (S116F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906734	NM_006739.4(MCM5):c.347C>G (p.Ser116Cys)	MCM5 (S116C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777701	NM_006739.4(MCM5):c.375G>C (p.Gln125His)	MCM5 (Q125H)	Single nucleotide variant (missense variant)	MCM5-related condition +1 more	GLikely benign
Select item 1345833	NM_006739.4(MCM5):c.379A>G (p.Met127Val)	MCM5 (M127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959095	NM_006739.4(MCM5):c.386A>G (p.Lys129Arg)	MCM5 (K129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658806	NM_006739.4(MCM5):c.387G>T (p.Lys129Asn)	MCM5 (K129N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2902244	NM_006739.4(MCM5):c.389C>T (p.Ser130Leu)	MCM5 (S130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348721	NM_006739.4(MCM5):c.394G>A (p.Ala132Thr)	MCM5 (A132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590835	NM_006739.4(MCM5):c.399C>T (p.Ser133=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693751	NM_006739.4(MCM5):c.407G>C (p.Ser136Thr)	MCM5 (S136T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3124364	NM_006739.4(MCM5):c.412C>T (p.Arg138Cys)	MCM5 (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074573	NM_006739.4(MCM5):c.413G>A (p.Arg138His)	MCM5 (R138H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321159	NM_006739.4(MCM5):c.423+7C>T	MCM5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1552869	NM_006739.4(MCM5):c.423+8G>A	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742656	NM_006739.4(MCM5):c.423+9G>A	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1463728	NM_006739.4(MCM5):c.423+13G>T	MCM5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1576355	NM_006739.4(MCM5):c.424-7A>G	MCM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802995	NM_006739.4(MCM5):c.425C>A (p.Ser142Ter)	MCM5 (S142*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1660348	NM_006739.4(MCM5):c.426G>A (p.Ser142=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610227	NM_006739.4(MCM5):c.430A>G (p.Met144Val)	MCM5 (M144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2747598	NM_006739.4(MCM5):c.437C>T (p.Ser146Leu)	MCM5 (S146L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491049	NM_006739.4(MCM5):c.445G>C (p.Val149Leu)	MCM5 (V149L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966835	NM_006739.4(MCM5):c.447G>A (p.Val149=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954358	NM_006739.4(MCM5):c.455C>T (p.Pro152Leu)	MCM5 (P152L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647737	NM_006739.4(MCM5):c.465C>T (p.Ile155=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600835	NM_006739.4(MCM5):c.468C>T (p.Ile156=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2150702	NM_006739.4(MCM5):c.469G>A (p.Ala157Thr)	MCM5 (A157T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521708	NM_006739.4(MCM5):c.470C>T (p.Ala157Val)	MCM5 (A157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944847	NM_006739.4(MCM5):c.471G>A (p.Ala157=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951450	NM_006739.4(MCM5):c.479C>T (p.Ala160Val)	MCM5 (A160V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2915898	NM_006739.4(MCM5):c.483C>G (p.Val161=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926514	NM_006739.4(MCM5):c.492G>A (p.Lys164=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480982	NM_006739.4(MCM5):c.497C>T (p.Thr166Ile)	MCM5 (T166I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1481098	NM_006739.4(MCM5):c.499C>T (p.Arg167Cys)	MCM5 (R167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739292	NM_006739.4(MCM5):c.500G>A (p.Arg167His)	MCM5 (R167H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2794982	NM_006739.4(MCM5):c.502A>G (p.Ile168Val)	MCM5 (I168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145560	NM_006739.4(MCM5):c.518G>A (p.Arg173His)	MCM5 (R173H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380664	NM_006739.4(MCM5):c.526C>T (p.Arg176Cys)	MCM5 (R176C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1599974	NM_006739.4(MCM5):c.527G>A (p.Arg176His)	MCM5 (R176H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1591735	NM_006739.4(MCM5):c.528C>A (p.Arg176=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2821004	NM_006739.4(MCM5):c.529A>C (p.Asn177His)	MCM5 (N177H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990518	NM_006739.4(MCM5):c.532A>T (p.Thr178Ser)	MCM5 (T178S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674156	NM_006739.4(MCM5):c.539C>G (p.Thr180Ser)	MCM5 (T180S)	Single nucleotide variant (missense variant)	MCM5-related condition +1 more	GBenign
Select item 2158252	NM_006739.4(MCM5):c.553C>T (p.Arg185Cys)	MCM5 (R185C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898530	NM_006739.4(MCM5):c.553C>A (p.Arg185Ser)	MCM5 (R185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474577	NM_006739.4(MCM5):c.556C>T (p.Pro186Ser)	MCM5 (P186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170741	NM_006739.4(MCM5):c.564C>T (p.Leu188=)	MCM5	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 4