ClinVar for Gene (Select 4615) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046226	NM_002468.5(MYD88):c.-1C>T	MYD88	Single nucleotide variant (5 prime UTR variant)	MYD88-related condition	GLikely benign
Select item 3021720	NM_002468.5(MYD88):c.329-15G>A	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2976229	NM_002468.5(MYD88):c.168T>C (p.Phe56=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2970645	NM_002468.5(MYD88):c.313C>T (p.Leu105=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2917264	NM_002468.5(MYD88):c.48C>T (p.Ser16=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2907308	NM_002468.5(MYD88):c.737-8G>A	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2903934	NM_002468.5(MYD88):c.-29A>C	MYD88 (D4A)	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2902846	NM_002468.5(MYD88):c.550C>A (p.Gln184Lys)	MYD88 (Q184K +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2883431	NM_002468.5(MYD88):c.837C>T (p.Pro279=)	MYD88	Single nucleotide variant (3 prime UTR variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2872644	NM_002468.5(MYD88):c.729C>T (p.Leu243=)	MYD88 (S237F +4 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2852851	NM_002468.5(MYD88):c.276G>C (p.Leu92=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2835024	NM_002468.5(MYD88):c.463+17G>C	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2795156	NM_002468.5(MYD88):c.587G>A (p.Arg196His)	MYD88 (R151H +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2785316	NM_002468.5(MYD88):c.672T>C (p.Ser224=)	MYD88 (L164P +3 more)	Single nucleotide variant (missense variant +2 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2764450	NM_002468.5(MYD88):c.363G>A (p.Gln121=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2700181	NM_002468.5(MYD88):c.736+9A>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2700180	NM_002468.5(MYD88):c.736+7del	MYD88	Deletion (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2699288	NM_002468.5(MYD88):c.-31C>G	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2576053	NM_002468.5(MYD88):c.244C>T (p.Pro82Ser)	MYD88 (P82S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2459952	NM_002468.5(MYD88):c.419G>A (p.Arg140Gln)	MYD88 (R140Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424455	NC_000003.11:g.(?_38180153)_(38618292_?)dup	MYD88, EXOG +6 more	Duplication	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2414797	NM_002468.5(MYD88):c.483C>T (p.Phe161=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2303899	NM_002468.5(MYD88):c.694G>C (p.Glu232Gln)	MYD88 (R225S +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242081	NM_002468.5(MYD88):c.650G>A (p.Arg217His)	MYD88 (A157T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200327	NM_002468.5(MYD88):c.-16T>G	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2191449	NM_002468.5(MYD88):c.519G>A (p.Gln173=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2180685	NM_002468.5(MYD88):c.702C>T (p.Asp234=)	MYD88 (T129I +4 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2169090	NM_002468.5(MYD88):c.883C>T (p.Leu295=)	MYD88	Single nucleotide variant (3 prime UTR variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2168546	NM_002468.5(MYD88):c.434C>T (p.Ala145Val)	MYD88 (A145V +1 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2167666	NM_002468.5(MYD88):c.329-16T>C	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2166620	NM_002468.5(MYD88):c.464-20C>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2164940	NM_002468.5(MYD88):c.294C>T (p.Arg98=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2156037	NM_002468.5(MYD88):c.465G>A (p.Gly155=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2155984	NM_002468.5(MYD88):c.63C>T (p.Pro21=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2155891	NM_002468.5(MYD88):c.31G>A (p.Ala11Thr)	MYD88 (A11T +1 more)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2151721	NM_002468.5(MYD88):c.644+17C>T	MYD88 (R234W +1 more)	Single nucleotide variant (intron variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2135205	NM_002468.5(MYD88):c.256_257del (p.Val86fs)	MYD88 (V86fs)	Deletion (frameshift variant)	Pyogenic bacterial infections due to MyD88 deficiency	GPathogenic
Select item 2118481	NM_002468.5(MYD88):c.351C>A (p.Ile117=)	MYD88	Single nucleotide variant (intron variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2115178	NM_002468.5(MYD88):c.657G>A (p.Met219Ile)	MYD88 (M219I +7 more)	Single nucleotide variant (nonsense +2 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2077487	NM_002468.5(MYD88):c.851G>A (p.Trp284Ter)	MYD88 (W292* +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2050927	NM_002468.5(MYD88):c.193G>A (p.Glu65Lys)	MYD88 (E65K +1 more)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2041884	NM_002468.5(MYD88):c.664G>C (p.Val222Leu)	MYD88 (V177L +7 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 2041747	NM_002468.5(MYD88):c.682C>T (p.Leu228=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2031407	NM_002468.5(MYD88):c.6T>C (p.Ala2=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2026129	NM_002468.5(MYD88):c.737-15C>A	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 2007888	NM_002468.5(MYD88):c.160A>G (p.Met54Val)	MYD88 (M54V +1 more)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1997566	NM_002468.5(MYD88):c.700G>A (p.Asp234Asn)	MYD88 (D189N +3 more)	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1986528	NM_002468.5(MYD88):c.329-15G>C	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1980900	NM_002468.5(MYD88):c.653G>A (p.Arg218Gln)	MYD88 (G212R +7 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1967291	NM_002468.5(MYD88):c.683T>G (p.Leu228Arg)	MYD88 (C168G +7 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1964402	NM_002468.5(MYD88):c.132G>T (p.Ala44=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1957984	NM_002468.5(MYD88):c.259G>A (p.Gly87Ser)	MYD88 (G100S +1 more)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1954963	NM_002468.5(MYD88):c.514A>G (p.Ile172Val)	MYD88 (I127V +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1936605	NM_002468.5(MYD88):c.75C>T (p.Leu25=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1915055	NM_002468.5(MYD88):c.525G>A (p.Val175=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1716934	NM_002468.5(MYD88):c.484G>A (p.Asp162Asn)	MYD88 (D117N +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1715997	NM_002468.5(MYD88):c.250G>A (p.Ala84Thr)	MYD88 (A84T +1 more)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1669869	NM_002468.5(MYD88):c.394G>A (p.Ala132Thr)	MYD88 (A132T)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1649464	NM_002468.5(MYD88):c.831C>T (p.Thr277=)	MYD88	Single nucleotide variant (3 prime UTR variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1636177	NM_002468.5(MYD88):c.114C>T (p.Asn38=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1633235	NM_002468.5(MYD88):c.510C>T (p.Ser170=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1629491	NM_002468.5(MYD88):c.645-14C>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1587051	NM_002468.5(MYD88):c.504C>T (p.Cys168=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1586868	NM_002468.5(MYD88):c.329-13C>G	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1578786	NM_002468.5(MYD88):c.463+11A>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1572340	NM_002468.5(MYD88):c.737-19G>C	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1567547	NM_002468.5(MYD88):c.737-9G>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1558926	NM_002468.5(MYD88):c.645-11C>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1528756	NM_002468.5(MYD88):c.328+11C>T	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GBenign
Select item 1527010	GRCh37/hg19 3p22.2(chr3:38109534-38669316)	ACAA1, ACVR2B +8 more	Copy number gain	not specified	GUncertain significance
Select item 1525607	NM_002468.5(MYD88):c.38C>G (p.Pro13Arg)	MYD88 (P13R)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1520407	NM_002468.5(MYD88):c.165C>A (p.Asp55Glu)	MYD88 (D55E)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1519879	NM_002468.5(MYD88):c.364C>A (p.Gln122Lys)	MYD88 (Q122K)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1508469	NM_002468.5(MYD88):c.463+1G>A	MYD88	Single nucleotide variant (splice donor variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely pathogenic
Select item 1496949	NM_002468.5(MYD88):c.-26G>C	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1482715	NM_002468.5(MYD88):c.295G>A (p.Asp99Asn)	MYD88 (D99N)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1469134	NM_002468.5(MYD88):c.115G>A (p.Val39Met)	MYD88 (V39M)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 1450408	NM_002468.5(MYD88):c.157G>A (p.Glu53Lys)	MYD88 (E53K)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1436032	NM_002468.5(MYD88):c.535A>G (p.Ile179Val)	MYD88 (I134V +1 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GUncertain significance
Select item 1430851	NM_002468.5(MYD88):c.838T>G (p.Cys280Gly)	MYD88 (C235G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1422697	NM_002468.5(MYD88):c.589G>A (p.Asp197Asn)	MYD88 (D197N +1 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1414016	NM_002468.5(MYD88):c.322A>G (p.Ser108Gly)	MYD88 (S108G)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1407259	NM_002468.5(MYD88):c.646T>A (p.Cys216Ser)	MYD88 (C171S +4 more)	Single nucleotide variant (synonymous variant +2 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1392686	NM_002468.5(MYD88):c.645-18C>G	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 1372255	NM_002468.5(MYD88):c.573G>C (p.Leu191Phe)	MYD88 (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1368280	NM_002468.5(MYD88):c.-26G>T	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1345311	NM_002468.5(MYD88):c.62C>G (p.Pro21Arg)	MYD88 (P21R)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1323304	NM_002468.5(MYD88):c.157G>T (p.Glu53Ter)	MYD88 (E53*)	Single nucleotide variant (nonsense)	Pyogenic bacterial infections due to MyD88 deficiency	GPathogenic
Select item 1316463	NM_002468.5(MYD88):c.103_104del (p.Leu35fs)	MYD88 (L35fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1160885	NM_002468.5(MYD88):c.-7G>C	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1149330	NM_002468.5(MYD88):c.464-4C>G	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1149150	NM_002468.5(MYD88):c.564A>T (p.Arg188=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1145955	NM_002468.5(MYD88):c.156G>A (p.Glu52=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1143993	NM_002468.5(MYD88):c.249C>A (p.Gly83=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1131531	NM_002468.5(MYD88):c.463+8T>G	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1123355	NM_002468.5(MYD88):c.321C>T (p.Pro107=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1099409	NM_002468.5(MYD88):c.636C>T (p.Ile212=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1095465	NM_002468.5(MYD88):c.396C>T (p.Ala132=)	MYD88	Single nucleotide variant (synonymous variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign

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