4615[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 163

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 1022664	NM_002468.5(MYD88):c.-39A>G	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 1052586	NM_002468.5(MYD88):c.-30G>T	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 958926	NM_002468.5(MYD88):c.-30G>A	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 469578	NM_002468.5(MYD88):c.-24_-6del	MYD88	Deletion (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GConflicting classifications of pathogenicity
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 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 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 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 134869	NM_002468.5(MYD88):c.-9C>G	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency +2 more	GUncertain significance
Select item 961630	NM_002468.5(MYD88):c.-8C>G	MYD88	Single nucleotide variant (5 prime UTR variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 3046226	NM_002468.5(MYD88):c.-1C>T	MYD88	Single nucleotide variant (5 prime UTR variant)	MYD88-related disorder	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 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 537305	NM_002468.5(MYD88):c.36C>G (p.Ala12=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GBenign
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 134870	NM_002468.5(MYD88):c.38C>A (p.Pro13Gln)	MYD88 (P13Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 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 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 748869	NM_002468.5(MYD88):c.66G>T (p.Leu22=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
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 134871	NM_002468.5(MYD88):c.80T>C (p.Met27Thr)	MYD88 (M27T)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GBenign
Select item 793926	NM_002468.5(MYD88):c.93C>A (p.Arg31=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GLikely benign
Select item 1316463	NM_002468.5(MYD88):c.103_104del (p.Leu35fs)	MYD88 (L35fs)	Microsatellite (frameshift variant)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 537299	NM_002468.5(MYD88):c.106T>C (p.Phe36Leu)	MYD88 (F36L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 639601	NM_002468.5(MYD88):c.113A>G (p.Asn38Ser)	MYD88 (N38S)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 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 134868	NM_002468.5(MYD88):c.121A>T (p.Thr41Ser)	MYD88 (T41S)	Single nucleotide variant (missense variant)	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 235259	NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del)	MYD88 (E53del)	Microsatellite (inframe_deletion)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 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 1520407	NM_002468.5(MYD88):c.165C>A (p.Asp55Glu)	MYD88 (D55E)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GUncertain significance
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 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 660526	NM_002468.5(MYD88):c.212C>T (p.Thr71Ile)	MYD88 (T71I)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 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 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 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 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 537304	NM_002468.5(MYD88):c.261C>T (p.Gly87=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency +1 more	GBenign/Likely benign
Select item 709850	NM_002468.5(MYD88):c.270C>G (p.Leu90=)	MYD88	Single nucleotide variant (synonymous variant)	Pyogenic bacterial infections due to MyD88 deficiency	GBenign
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 7496	NM_002468.5(MYD88):c.278T>C (p.Leu93Pro)	MYD88 (L93P)	Single nucleotide variant (missense variant)	Pyogenic bacterial infections due to MyD88 deficiency	GPathogenic
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 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 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 3155445	NM_002468.5(MYD88):c.320C>T (p.Pro107Leu)	MYD88 (P120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1002724	NM_002468.5(MYD88):c.328+6G>A	MYD88	Single nucleotide variant (intron variant)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 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 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 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 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 2118481	NM_002468.5(MYD88):c.351C>A (p.Ile117=)	MYD88	Single nucleotide variant (synonymous variant +1 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 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 537301	NM_002468.5(MYD88):c.366G>T (p.Gln122His)	MYD88 (Q122H)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 3155448	NM_002468.5(MYD88):c.367G>C (p.Glu123Gln)	MYD88 (E136Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155452	NM_002468.5(MYD88):c.374C>A (p.Ala125Asp)	MYD88 (A138D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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
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 1018824	NM_002468.5(MYD88):c.422C>G (p.Thr141Arg)	MYD88 (T141R)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 846019	NM_002468.5(MYD88):c.434C>A (p.Ala145Glu)	MYD88 (A145E)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1021056	NM_002468.5(MYD88):c.455A>T (p.Asp152Val)	MYD88 (D152V)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 953721	NM_002468.5(MYD88):c.458C>A (p.Pro153His)	MYD88 (P153H)	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 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 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 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 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 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 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 838237	NM_002468.5(MYD88):c.479G>A (p.Arg160His)	MYD88 (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 568203	NM_002468.5(MYD88):c.499T>C (p.Tyr167His)	MYD88 (Y167H +1 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1046016	NM_002468.5(MYD88):c.500A>G (p.Tyr167Cys)	MYD88 (Y122C +1 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 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 574389	NM_002468.5(MYD88):c.511G>A (p.Asp171Asn)	MYD88 (D171N +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 1057053	NM_002468.5(MYD88):c.529G>A (p.Glu177Lys)	MYD88 (E132K +1 more)	Single nucleotide variant (missense variant +1 more)	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

<< First< Prev

Page of 2