12572[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 145881	GRCh38/hg38 12q24.11(chr12:109081325-109154941)x3	ACACB, ALKBH2 +4 more	Copy number gain	See cases	GLikely benign
Select item 306963	NM_080911.3(UNG):c.-73C>T	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 884163	NM_080911.3(UNG):c.-51A>G	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306964	NM_080911.3(UNG):c.-51A>T	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 884164	NM_080911.3(UNG):c.-50G>A	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306965	NM_080911.3(UNG):c.6C>A (p.Ile2=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1059502	NM_080911.3(UNG):c.14A>G (p.Lys5Arg)	UNG (K5R)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1694079	NM_080911.3(UNG):c.16A>G (p.Thr6Ala)	UNG (T6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947219	NM_080911.3(UNG):c.32T>C (p.Phe11Ser)	UNG (F11S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1374478	NM_080911.3(UNG):c.34T>A (p.Ser12Thr)	UNG (S12T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2083377	NM_080911.3(UNG):c.39del (p.Ser14fs)	UNG (S14fs)	Deletion (frameshift variant)	Hyper-IgM syndrome type 5	GPathogenic
Select item 1347471	NM_080911.3(UNG):c.47_73del (p.Ala16_Pro24del)	UNG	Deletion (inframe_deletion)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1132218	NM_080911.3(UNG):c.36C>T (p.Ser12=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 884165	NM_080911.3(UNG):c.36C>A (p.Ser12=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 2695556	NM_080911.3(UNG):c.60C>T (p.His20=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 643750	NM_080911.3(UNG):c.61G>A (p.Ala21Thr)	UNG (A21T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1369721	NM_080911.3(UNG):c.62C>T (p.Ala21Val)	UNG (A21V)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 880878	NM_080911.3(UNG):c.65C>T (p.Pro22Leu)	UNG (P22L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1425612	NM_080911.3(UNG):c.76C>T (p.Pro26Ser)	UNG (P26S)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1975332	NM_080911.3(UNG):c.77C>A (p.Pro26Gln)	UNG (P26Q)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306966	NM_080911.3(UNG):c.81C>A (p.Ala27=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 880879	NM_080911.3(UNG):c.86A>C (p.Gln29Pro)	UNG (Q29P)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1943735	NM_080911.3(UNG):c.90G>A (p.Gly30=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1364710	NM_080911.3(UNG):c.90G>T (p.Gly30=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 306967	NM_080911.3(UNG):c.100G>A (p.Ala34Thr)	UNG, LOC130008712 (A34T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2167146	NM_080911.3(UNG):c.105G>A (p.Gly35=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1517560	NM_080911.3(UNG):c.110C>A (p.Pro37His)	LOC130008712, UNG (P37H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1620519	NM_080911.3(UNG):c.120C>T (p.Ser40=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 947290	NM_080911.3(UNG):c.124G>C (p.Asp42His)	LOC130008712, UNG (D42H)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1105951	NM_080911.3(UNG):c.126T>C (p.Asp42=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2766157	NM_080911.3(UNG):c.129G>A (p.Ala43=)	LOC130008712, UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2725894	NM_080911.3(UNG):c.132+1G>A	LOC130008712, UNG	Single nucleotide variant (splice donor variant)	Hyper-IgM syndrome type 5	GLikely pathogenic
Select item 1530114	NM_080911.3(UNG):c.132+14T>G	LOC130008712, UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1566199	NM_080911.3(UNG):c.132+16G>T	LOC130008712, UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1952623	NM_080911.3(UNG):c.132+19C>T	LOC130008712, UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1244809	NM_080911.3(UNG):c.132+193A>G	LOC130008712, UNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258409	NM_080911.3(UNG):c.132+241T>A	LOC130008712, UNG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251149	NM_080911.3(UNG):c.133-221C>T	UNG	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3048400	NM_080911.3(UNG):c.133-110C>T	UNG	Single nucleotide variant (5 prime UTR variant +1 more)	UNG-related disorder	GLikely benign
Select item 2959062	NM_080911.3(UNG):c.133-19C>T	UNG	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2957628	NM_080911.3(UNG):c.133-13_133-10dup	UNG (H33fs)	Duplication (frameshift variant +1 more)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2017903	NM_080911.3(UNG):c.133-8A>C	UNG (H33P)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1089802	NM_080911.3(UNG):c.133-7C>T	UNG	Single nucleotide variant (synonymous variant +1 more)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2787212	NM_080911.3(UNG):c.133-2A>G	UNG (Q35R)	Single nucleotide variant (missense variant +1 more)	Hyper-IgM syndrome type 5	GLikely pathogenic
Select item 1965928	NM_080911.3(UNG):c.134C>T (p.Ala45Val)	UNG (A45V +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2965182	NM_080911.3(UNG):c.135C>T (p.Ala45=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2862864	NM_080911.3(UNG):c.138C>A (p.Ile46=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2416784	NM_080911.3(UNG):c.141A>G (p.Pro47=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 463870	NM_080911.3(UNG):c.146A>G (p.Lys49Arg)	UNG (K49R +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1568145	NM_080911.3(UNG):c.153C>G (p.Ala51=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1055136	NM_080911.3(UNG):c.155C>G (p.Pro52Arg)	UNG (P43R +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2068429	NM_080911.3(UNG):c.162del (p.Gln55fs)	UNG (Q55fs +1 more)	Deletion (frameshift variant)	Hyper-IgM syndrome type 5	GPathogenic
Select item 2899180	NM_080911.3(UNG):c.168G>A (p.Glu56=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1015993	NM_080911.3(UNG):c.173C>T (p.Pro58Leu)	UNG (P49L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5 +1 more	GUncertain significance
Select item 851461	NM_080911.3(UNG):c.178_182delinsCAGGAGGA (p.Thr60_Pro61delinsGlnGluGlu)	UNG	Indel (inframe_indel)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 789324	NM_080911.3(UNG):c.183G>A (p.Pro61=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5 +1 more	GConflicting classifications of pathogenicity
Select item 1124110	NM_080911.3(UNG):c.186C>T (p.Pro62=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1373098	NM_080911.3(UNG):c.188C>T (p.Ser63Phe)	UNG (S63F +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2999597	NM_080911.3(UNG):c.189C>G (p.Ser63=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1063954	NM_080911.3(UNG):c.191C>G (p.Ser64Trp)	UNG (S55W +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 710807	NM_080911.3(UNG):c.194C>T (p.Pro65Leu)	UNG (P65L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 1358029	NM_080911.3(UNG):c.200G>A (p.Ser67Asn)	UNG (S67N +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306969	NM_080911.3(UNG):c.204C>T (p.Ala68=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306968	NM_080911.3(UNG):c.204C>G (p.Ala68=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 306970	NM_080911.3(UNG):c.231C>G (p.Asn77Lys)	UNG (N77K +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1001089	NM_080911.3(UNG):c.232A>G (p.Lys78Glu)	UNG (K69E +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2899175	NM_080911.3(UNG):c.237C>T (p.Ala79=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 36894	NM_080911.3(UNG):c.246G>C (p.Leu82=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 2048165	NM_080911.3(UNG):c.250dup (p.Arg84fs)	UNG (R75fs +1 more)	Duplication (frameshift variant)	Hyper-IgM syndrome type 5	GPathogenic
Select item 646511	NM_080911.3(UNG):c.260C>T (p.Ala87Val)	UNG (A78V +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 440391	NM_080911.3(UNG):c.262C>T (p.Arg88Cys)	UNG (R88C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2125114	NM_080911.3(UNG):c.263G>C (p.Arg88Pro)	UNG (R79P +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 532544	NM_080911.3(UNG):c.265A>G (p.Asn89Asp)	UNG (N89D +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 3186720	NM_080911.3(UNG):c.266A>G (p.Asn89Ser)	UNG (N80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1593162	NM_080911.3(UNG):c.267C>T (p.Asn89=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1054803	NM_080911.3(UNG):c.268G>C (p.Val90Leu)	UNG (V81L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5 +1 more	GUncertain significance
Select item 1058940	NM_080911.3(UNG):c.271C>G (p.Pro91Ala)	UNG (P82A +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2134622	NM_080911.3(UNG):c.273C>T (p.Pro91=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1668924	NM_080911.3(UNG):c.273C>G (p.Pro91=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 751909	NM_080911.3(UNG):c.285A>G (p.Gly95=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2146141	NM_080911.3(UNG):c.288G>C (p.Glu96Asp)	UNG (E87D +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 981858	NM_080911.3(UNG):c.289A>T (p.Ser97Cys)	UNG (S88C +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 463871	NM_080911.3(UNG):c.291C>T (p.Ser97=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5 +1 more	GBenign
Select item 1064649	NM_080911.3(UNG):c.294del (p.Ser97_Trp98insTer)	UNG	Deletion (nonsense)	Hyper-IgM syndrome type 5	GPathogenic
Select item 2966425	NM_080911.3(UNG):c.303C>T (p.His101=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 546720	NM_080911.3(UNG):c.309del (p.Ser103fs)	UNG (S103fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2892054	NM_080911.3(UNG):c.312G>C (p.Gly104=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 3363490	NM_080911.3(UNG):c.313G>T (p.Glu105Ter)	UNG (E105* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 945613	NM_080911.3(UNG):c.318C>A (p.Phe106Leu)	UNG (F106L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2102309	NM_080911.3(UNG):c.324A>G (p.Lys108=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 3331105	NM_080911.3(UNG):c.338A>G (p.Lys113Arg)	UNG (K113R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507339	NM_080911.3(UNG):c.339G>T (p.Lys113Asn)	UNG (K104N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366622	NM_080911.3(UNG):c.339+6T>C	UNG	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1574710	NM_080911.3(UNG):c.339+11A>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5 +1 more	GLikely benign
Select item 2854823	NM_080911.3(UNG):c.339+13A>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1086419	NM_080911.3(UNG):c.339+15G>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1599850	NM_080911.3(UNG):c.339+17A>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GBenign

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