ClinVar for Gene (Select 7374) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3024057	NM_080911.3(UNG):c.802-15C>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 3011982	NM_080911.3(UNG):c.802-12G>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
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 2993706	NM_080911.3(UNG):c.623-9T>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2981008	NM_080911.3(UNG):c.801+16T>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2971576	NM_080911.3(UNG):c.783G>A (p.Lys261=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
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 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 2964226	NM_080911.3(UNG):c.519T>C (p.Val173=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2964202	NM_080911.3(UNG):c.435+9A>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	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 2955159	NM_080911.3(UNG):c.623-15C>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2917470	NM_080911.3(UNG):c.622+20A>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
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 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 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 2878858	NM_080911.3(UNG):c.623-10_623-9del	UNG	Deletion (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2866387	NM_080911.3(UNG):c.802-9C>T	UNG	Single nucleotide variant (intron 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 2854823	NM_080911.3(UNG):c.339+13A>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2808214	NM_080911.3(UNG):c.654T>C (p.Val218=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2790360	NM_080911.3(UNG):c.622+19G>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2787212	NM_080911.3(UNG):c.133-2A>G	UNG (Q35R)	Single nucleotide variant (splice acceptor variant +1 more)	Hyper-IgM syndrome type 5	GLikely pathogenic
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 2735958	NM_080911.3(UNG):c.569_570del (p.Ile190fs)	UNG (I181fs +1 more)	Deletion (frameshift variant)	Hyper-IgM syndrome type 5	GPathogenic
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 2717930	NM_080911.3(UNG):c.437T>G (p.Val146Gly)	UNG (V146G +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2704011	NM_080911.3(UNG):c.925G>A (p.Asp309Asn)	UNG (D309N +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
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 2662425	NM_080911.3(UNG):c.802-51_802-48dup	UNG	Duplication (intron variant)	not provided	GLikely benign
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 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 2310326	NM_080911.3(UNG):c.442G>T (p.Val148Phe)	UNG (V148F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288605	NM_080911.3(UNG):c.389C>T (p.Pro130Leu)	UNG (P121L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173861	NM_080911.3(UNG):c.623-11C>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2172233	NM_080911.3(UNG):c.579T>G (p.Phe193Leu)	UNG (F193L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GBenign
Select item 2170079	NM_080911.3(UNG):c.487C>T (p.His163Tyr)	UNG (H154Y +1 more)	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 2164408	NM_080911.3(UNG):c.527C>T (p.Pro176Leu)	UNG (P167L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2151228	NM_080911.3(UNG):c.580G>A (p.Val194Ile)	UNG (V194I +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2146996	NM_080911.3(UNG):c.435+11C>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2146237	NM_080911.3(UNG):c.489C>T (p.His163=)	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 2139290	NM_080911.3(UNG):c.674C>T (p.Ser225Phe)	UNG (S216F +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 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 2112156	NM_080911.3(UNG):c.924T>A (p.Ile308=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
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 2101232	NM_080911.3(UNG):c.622+6C>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2101219	NM_080911.3(UNG):c.737C>T (p.Ser246Leu)	UNG (S237L +1 more)	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 2071050	NM_080911.3(UNG):c.895C>T (p.Leu299=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
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 2061111	NM_080911.3(UNG):c.495C>T (p.Leu165=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 2060994	NM_080911.3(UNG):c.824C>G (p.Thr275Arg)	UNG (T266R +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2050702	NM_080911.3(UNG):c.388C>A (p.Pro130Thr)	UNG (P130T +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 2050480	NM_080911.3(UNG):c.521C>T (p.Pro174Leu)	UNG (P174L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 2003927	NM_080911.3(UNG):c.489C>A (p.His163Gln)	UNG (H154Q +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1991585	NM_080911.3(UNG):c.339+18C>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1979853	NM_080911.3(UNG):c.622+11G>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
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 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 1963966	NM_080911.3(UNG):c.801+19_801+22del	UNG	Microsatellite (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1962998	NM_080911.3(UNG):c.634C>G (p.Leu212Val)	UNG (L203V +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1956695	NM_080911.3(UNG):c.640G>A (p.Ala214Thr)	UNG (A205T +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
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 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 1906907	NM_080911.3(UNG):c.631C>T (p.Leu211Phe)	UNG (L202F +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 1897878	NM_080911.3(UNG):c.801+18T>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1707290	NM_080911.3(UNG):c.802-48del	UNG	Deletion (intron variant)	not provided	GLikely benign
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 1687471	NM_080911.3(UNG):c.649dup (p.Thr217fs)	UNG (T208fs +1 more)	Duplication (frameshift variant)	Hyper-IgM syndrome type 5	GPathogenic
Select item 1673715	NM_080911.3(UNG):c.534-14T>C	UNG	Single nucleotide variant (intron 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 1653661	NM_080911.3(UNG):c.533+17G>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1648354	NM_080911.3(UNG):c.771T>C (p.Tyr257=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1636938	NM_080911.3(UNG):c.435+15T>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1635716	NM_080911.3(UNG):c.801+27dup	UNG	Duplication (intron variant)	Hyper-IgM syndrome type 5	GBenign
Select item 1625698	NM_080911.3(UNG):c.696G>A (p.Glu232=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
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 1607182	NM_080911.3(UNG):c.801+14T>C	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1605838	NM_080911.3(UNG):c.533+15C>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1602455	NM_080911.3(UNG):c.436-19G>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
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 1585869	NM_080911.3(UNG):c.623-13C>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1578368	NM_080911.3(UNG):c.340-20C>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1577194	NM_080911.3(UNG):c.486T>C (p.Ala162=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1574710	NM_080911.3(UNG):c.339+11A>C	UNG	Single nucleotide variant (intron 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 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 1559605	NM_080911.3(UNG):c.622+16C>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1557717	NM_080911.3(UNG):c.408C>T (p.Thr136=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1555301	NM_080911.3(UNG):c.533+18G>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 1548140	NM_080911.3(UNG):c.802-20T>G	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GLikely benign

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