ClinVar for MedGen (Select 383023) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24244551.	NC_000003.11:g.(?_38180153)_(38618292_?)dup GRCh37: Chr3:38180153-38618292	ACVR2B, EXOG, MYD88, OXSR1, SCN5A, SLC22A13, SLC22A14, XYLB		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 24147972.	NM_002468.5(MYD88):c.483C>T (p.Phe161=) GRCh37: Chr3:38181898 GRCh38: Chr3:38140407	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 22003273.	NM_002468.5(MYD88):c.-16T>G GRCh37: Chr3:38180176 GRCh38: Chr3:38138685	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 21914494.	NM_002468.5(MYD88):c.519G>A (p.Gln173=) GRCh37: Chr3:38181934 GRCh38: Chr3:38140443	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 21806855.	NM_002468.5(MYD88):c.702C>T (p.Asp234=) GRCh37: Chr3:38182305 GRCh38: Chr3:38140814	MYD88	T129I, T220I, T174I, T183I, T228I	Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 21690906.	NM_002468.5(MYD88):c.883C>T (p.Leu295=) GRCh37: Chr3:38182769 GRCh38: Chr3:38141278	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 21685467.	NM_002468.5(MYD88):c.434C>T (p.Ala145Val) GRCh37: Chr3:38181460 GRCh38: Chr3:38139969	MYD88	A145V, A158V	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 21676668.	NM_002468.5(MYD88):c.329-16T>C GRCh37: Chr3:38181339 GRCh38: Chr3:38139848	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 21666209.	NM_002468.5(MYD88):c.464-20C>T GRCh37: Chr3:38181859 GRCh38: Chr3:38140368	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 216494010.	NM_002468.5(MYD88):c.294C>T (p.Arg98=) GRCh37: Chr3:38180485 GRCh38: Chr3:38138994	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 215603711.	NM_002468.5(MYD88):c.465G>A (p.Gly155=) GRCh37: Chr3:38181880 GRCh38: Chr3:38140389	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 215598412.	NM_002468.5(MYD88):c.63C>T (p.Pro21=) GRCh37: Chr3:38180254 GRCh38: Chr3:38138763	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 215589113.	NM_002468.5(MYD88):c.31G>A (p.Ala11Thr) GRCh37: Chr3:38180222 GRCh38: Chr3:38138731	MYD88	A11T, A24T	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 215172114.	NM_002468.5(MYD88):c.644+17C>T GRCh37: Chr3:38182076 GRCh38: Chr3:38140585	MYD88	R234W, R221W	Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 213520515.	NM_002468.5(MYD88):c.256_257del (p.Val86fs) GRCh37: Chr3:38180446-38180447 GRCh38: Chr3:38138955-38138956	MYD88	V86fs	Pyogenic bacterial infections due to MyD88 deficiency	Pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 211848116.	NM_002468.5(MYD88):c.351C>A (p.Ile117=) GRCh37: Chr3:38181377 GRCh38: Chr3:38139886	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211517817.	NM_002468.5(MYD88):c.657G>A (p.Met219Ile) GRCh37: Chr3:38182260 GRCh38: Chr3:38140769	MYD88	M219I, W114, W159, W213, M174I, M240I, M227I, W168	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 207748718.	NM_002468.5(MYD88):c.851G>A (p.Trp284Ter) GRCh37: Chr3:38182737 GRCh38: Chr3:38141246	MYD88	W292, W305, W284, W239	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 205092719.	NM_002468.5(MYD88):c.193G>A (p.Glu65Lys) GRCh37: Chr3:38180384 GRCh38: Chr3:38138893	MYD88	E65K, E78K	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 204188420.	NM_002468.5(MYD88):c.664G>C (p.Val222Leu) GRCh37: Chr3:38182267 GRCh38: Chr3:38140776	MYD88	V177L, V222L, W161C, V243L, W116C, V230L, W170C, W215C	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 204174721.	NM_002468.5(MYD88):c.682C>T (p.Leu228=) GRCh37: Chr3:38182285 GRCh38: Chr3:38140794	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 203140722.	NM_002468.5(MYD88):c.6T>C (p.Ala2=) GRCh37: Chr3:38180197 GRCh38: Chr3:38138706	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 202612923.	NM_002468.5(MYD88):c.737-15C>A GRCh37: Chr3:38182608 GRCh38: Chr3:38141117	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 200788824.	NM_002468.5(MYD88):c.160A>G (p.Met54Val) GRCh37: Chr3:38180351 GRCh38: Chr3:38138860	MYD88	M54V, M67V	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 199756625.	NM_002468.5(MYD88):c.700G>A (p.Asp234Asn) GRCh37: Chr3:38182303 GRCh38: Chr3:38140812	MYD88	D189N, D234N, D242N, D255N	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 198652826.	NM_002468.5(MYD88):c.329-15G>C GRCh37: Chr3:38181340 GRCh38: Chr3:38139849	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 198090027.	NM_002468.5(MYD88):c.653G>A (p.Arg218Gln) GRCh37: Chr3:38182256 GRCh38: Chr3:38140765	MYD88	G212R, R226Q, R218Q, R239Q, R173Q, G113R, G158R, G167R	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 196729128.	NM_002468.5(MYD88):c.683T>G (p.Leu228Arg) GRCh37: Chr3:38182286 GRCh38: Chr3:38140795	MYD88	C168G, C123G, C222G, L228R, L236R, C177G, L183R, L249R	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 196440229.	NM_002468.5(MYD88):c.132G>T (p.Ala44=) GRCh37: Chr3:38180323 GRCh38: Chr3:38138832	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 195798430.	NM_002468.5(MYD88):c.259G>A (p.Gly87Ser) GRCh37: Chr3:38180450 GRCh38: Chr3:38138959	MYD88	G100S, G87S	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 195496331.	NM_002468.5(MYD88):c.514A>G (p.Ile172Val) GRCh37: Chr3:38181929 GRCh38: Chr3:38140438	MYD88	I127V, I172V, I185V	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 193660532.	NM_002468.5(MYD88):c.75C>T (p.Leu25=) GRCh37: Chr3:38180266 GRCh38: Chr3:38138775	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 191505533.	NM_002468.5(MYD88):c.525G>A (p.Val175=) GRCh37: Chr3:38181940 GRCh38: Chr3:38140449	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 171693434.	NM_002468.5(MYD88):c.484G>A (p.Asp162Asn) GRCh37: Chr3:38181899 GRCh38: Chr3:38140408	MYD88	D117N, D162N, D175N	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 171599735.	NM_002468.5(MYD88):c.250G>A (p.Ala84Thr) GRCh37: Chr3:38180441 GRCh38: Chr3:38138950	MYD88	A84T, A97T	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 166986936.	NM_002468.5(MYD88):c.394G>A (p.Ala132Thr) GRCh37: Chr3:38181420 GRCh38: Chr3:38139929	MYD88	A132T	Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 164946437.	NM_002468.5(MYD88):c.831C>T (p.Thr277=) GRCh37: Chr3:38182717 GRCh38: Chr3:38141226	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 163617738.	NM_002468.5(MYD88):c.114C>T (p.Asn38=) GRCh37: Chr3:38180305 GRCh38: Chr3:38138814	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 163323539.	NM_002468.5(MYD88):c.510C>T (p.Ser170=) GRCh37: Chr3:38181925 GRCh38: Chr3:38140434	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 162949140.	NM_002468.5(MYD88):c.645-14C>T GRCh37: Chr3:38182234 GRCh38: Chr3:38140743	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 158705141.	NM_002468.5(MYD88):c.504C>T (p.Cys168=) GRCh37: Chr3:38181919 GRCh38: Chr3:38140428	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 158686842.	NM_002468.5(MYD88):c.329-13C>G GRCh37: Chr3:38181342 GRCh38: Chr3:38139851	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 157878643.	NM_002468.5(MYD88):c.463+11A>T GRCh37: Chr3:38181500 GRCh38: Chr3:38140009	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 157234044.	NM_002468.5(MYD88):c.737-19G>C GRCh37: Chr3:38182604 GRCh38: Chr3:38141113	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 156754745.	NM_002468.5(MYD88):c.737-9G>T GRCh37: Chr3:38182614 GRCh38: Chr3:38141123	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 155892646.	NM_002468.5(MYD88):c.645-11C>T GRCh37: Chr3:38182237 GRCh38: Chr3:38140746	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jan 4, 2021)	criteria provided, single submitter
Select item 152875647.	NM_002468.5(MYD88):c.328+11C>T GRCh37: Chr3:38180530 GRCh38: Chr3:38139039	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 152560748.	NM_002468.5(MYD88):c.38C>G (p.Pro13Arg) GRCh37: Chr3:38180229 GRCh38: Chr3:38138738	MYD88	P13R	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 152040749.	NM_002468.5(MYD88):c.165C>A (p.Asp55Glu) GRCh37: Chr3:38180356 GRCh38: Chr3:38138865	MYD88	D55E	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 151987950.	NM_002468.5(MYD88):c.364C>A (p.Gln122Lys) GRCh37: Chr3:38181390 GRCh38: Chr3:38139899	MYD88	Q122K	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 150846951.	NM_002468.5(MYD88):c.463+1G>A GRCh37: Chr3:38181490 GRCh38: Chr3:38139999	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 149694952.	NM_002468.5(MYD88):c.-26G>C GRCh37: Chr3:38180166 GRCh38: Chr3:38138675	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 148271553.	NM_002468.5(MYD88):c.295G>A (p.Asp99Asn) GRCh37: Chr3:38180486 GRCh38: Chr3:38138995	MYD88	D99N	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 146913454.	NM_002468.5(MYD88):c.115G>A (p.Val39Met) GRCh37: Chr3:38180306 GRCh38: Chr3:38138815	MYD88	V39M	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 145040855.	NM_002468.5(MYD88):c.157G>A (p.Glu53Lys) GRCh37: Chr3:38180348 GRCh38: Chr3:38138857	MYD88	E53K	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 143603256.	NM_002468.5(MYD88):c.535A>G (p.Ile179Val) GRCh37: Chr3:38181950 GRCh38: Chr3:38140459	MYD88	I134V, I179V	Pyogenic bacterial infections due to MyD88 deficiency, Inborn genetic diseases	Uncertain significance (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143085157.	NM_002468.5(MYD88):c.838T>G (p.Cys280Gly) GRCh37: Chr3:38182724 GRCh38: Chr3:38141233	MYD88	C235G, C280G, C288G	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 142269758.	NM_002468.5(MYD88):c.589G>A (p.Asp197Asn) GRCh37: Chr3:38182004 GRCh38: Chr3:38140513	MYD88	D197N, D152N	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 141401659.	NM_002468.5(MYD88):c.322A>G (p.Ser108Gly) GRCh37: Chr3:38180513 GRCh38: Chr3:38139022	MYD88	S108G	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 140725960.	NM_002468.5(MYD88):c.646T>A (p.Cys216Ser) GRCh37: Chr3:38182249 GRCh38: Chr3:38140758	MYD88	C171S, S209R, C224S, S164R, C216S	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 22, 2021)	criteria provided, single submitter
Select item 139268661.	NM_002468.5(MYD88):c.645-18C>G GRCh37: Chr3:38182230 GRCh38: Chr3:38140739	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 137225562.	NM_002468.5(MYD88):c.573G>C (p.Leu191Phe) GRCh37: Chr3:38181988 GRCh38: Chr3:38140497	MYD88	L146F, L191F	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 136828063.	NM_002468.5(MYD88):c.-26G>T GRCh37: Chr3:38180166 GRCh38: Chr3:38138675	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 134531164.	NM_002468.5(MYD88):c.62C>G (p.Pro21Arg) GRCh37: Chr3:38180253 GRCh38: Chr3:38138762	MYD88	P21R	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 132330465.	NM_002468.5(MYD88):c.157G>T (p.Glu53Ter) GRCh37: Chr3:38180348 GRCh38: Chr3:38138857	MYD88	E53*	Pyogenic bacterial infections due to MyD88 deficiency	Pathogenic (Feb 14, 2020)	criteria provided, single submitter
Select item 131646366.	NM_002468.5(MYD88):c.103_104del (p.Leu35fs) GRCh37: Chr3:38180291-38180292 GRCh38: Chr3:38138800-38138801	MYD88	L35fs	Pyogenic bacterial infections due to MyD88 deficiency, not provided	Conflicting interpretations of pathogenicity (Nov 29, 2021)	criteria provided, conflicting interpretations
Select item 116088567.	NM_002468.5(MYD88):c.-7G>C GRCh37: Chr3:38180185 GRCh38: Chr3:38138694	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 114933068.	NM_002468.5(MYD88):c.464-4C>G GRCh37: Chr3:38181875 GRCh38: Chr3:38140384	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jan 30, 2020)	criteria provided, single submitter
Select item 114915069.	NM_002468.5(MYD88):c.564A>T (p.Arg188=) GRCh37: Chr3:38181979 GRCh38: Chr3:38140488	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 114595570.	NM_002468.5(MYD88):c.156G>A (p.Glu52=) GRCh37: Chr3:38180347 GRCh38: Chr3:38138856	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 3, 2020)	criteria provided, single submitter
Select item 114399371.	NM_002468.5(MYD88):c.249C>A (p.Gly83=) GRCh37: Chr3:38180440 GRCh38: Chr3:38138949	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 18, 2019)	criteria provided, single submitter
Select item 113153172.	NM_002468.5(MYD88):c.463+8T>G GRCh37: Chr3:38181497 GRCh38: Chr3:38140006	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 112335573.	NM_002468.5(MYD88):c.321C>T (p.Pro107=) GRCh37: Chr3:38180512 GRCh38: Chr3:38139021	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jun 30, 2019)	criteria provided, single submitter
Select item 109940974.	NM_002468.5(MYD88):c.636C>T (p.Ile212=) GRCh37: Chr3:38182051 GRCh38: Chr3:38140560	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Apr 9, 2019)	criteria provided, single submitter
Select item 109546575.	NM_002468.5(MYD88):c.396C>T (p.Ala132=) GRCh37: Chr3:38181422 GRCh38: Chr3:38139931	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 107918276.	NM_002468.5(MYD88):c.737-18G>T GRCh37: Chr3:38182605 GRCh38: Chr3:38141114	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 107894977.	NM_002468.5(MYD88):c.538C>T (p.Arg180Trp) GRCh37: Chr3:38181953 GRCh38: Chr3:38140462	MYD88	R135W, R180W	Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 105705378.	NM_002468.5(MYD88):c.529G>A (p.Glu177Lys) GRCh37: Chr3:38181944 GRCh38: Chr3:38140453	MYD88	E132K, E177K	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 105258679.	NM_002468.5(MYD88):c.-30G>T GRCh37: Chr3:38180162 GRCh38: Chr3:38138671	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 104601680.	NM_002468.5(MYD88):c.500A>G (p.Tyr167Cys) GRCh37: Chr3:38181915 GRCh38: Chr3:38140424	MYD88	Y122C, Y167C	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 102266481.	NM_002468.5(MYD88):c.-39A>G GRCh37: Chr3:38180153 GRCh38: Chr3:38138662	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 102105682.	NM_002468.5(MYD88):c.455A>T (p.Asp152Val) GRCh37: Chr3:38181481 GRCh38: Chr3:38139990	MYD88	D152V	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 101882483.	NM_002468.5(MYD88):c.422C>G (p.Thr141Arg) GRCh37: Chr3:38181448 GRCh38: Chr3:38139957	MYD88	T141R	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100414184.	NM_002468.5(MYD88):c.602G>A (p.Gly201Asp) GRCh37: Chr3:38182017 GRCh38: Chr3:38140526	MYD88	G156D, G201D	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 100272485.	NM_002468.5(MYD88):c.328+6G>A GRCh37: Chr3:38180525 GRCh38: Chr3:38139034	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 96163086.	NM_002468.5(MYD88):c.-8C>G GRCh37: Chr3:38180184 GRCh38: Chr3:38138693	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 9, 2019)	criteria provided, single submitter
Select item 95892687.	NM_002468.5(MYD88):c.-30G>A GRCh37: Chr3:38180162 GRCh38: Chr3:38138671	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95372188.	NM_002468.5(MYD88):c.458C>A (p.Pro153His) GRCh37: Chr3:38181484 GRCh38: Chr3:38139993	MYD88	P153H	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 84601989.	NM_002468.5(MYD88):c.434C>A (p.Ala145Glu) GRCh37: Chr3:38181460 GRCh38: Chr3:38139969	MYD88	A145E	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 83823790.	NM_002468.5(MYD88):c.479G>A (p.Arg160His) GRCh37: Chr3:38181894 GRCh38: Chr3:38140403	MYD88	R115H, R160H	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 79392691.	NM_002468.5(MYD88):c.93C>A (p.Arg31=) GRCh37: Chr3:38180284 GRCh38: Chr3:38138793	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 29, 2018)	criteria provided, single submitter
Select item 76670992.	NM_002468.5(MYD88):c.669C>G (p.Val223=) GRCh37: Chr3:38182272 GRCh38: Chr3:38140781	MYD88	S163C, S172C, S217C, S118C	Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Feb 1, 2020)	criteria provided, single submitter
Select item 76657093.	NM_002468.5(MYD88):c.723C>T (p.Leu241=) GRCh37: Chr3:38182326 GRCh38: Chr3:38140835	MYD88	S136L, S181L, S190L, S227L, S235L	Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Nov 15, 2018)	criteria provided, single submitter
Select item 75798994.	NM_002468.5(MYD88):c.736+10A>G GRCh37: Chr3:38182349 GRCh38: Chr3:38140858	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (May 1, 2018)	criteria provided, single submitter
Select item 74886995.	NM_002468.5(MYD88):c.66G>T (p.Leu22=) GRCh37: Chr3:38180257 GRCh38: Chr3:38138766	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 71959196.	NM_002468.5(MYD88):c.644+3T>C GRCh37: Chr3:38182062 GRCh38: Chr3:38140571	MYD88	L216S	Pyogenic bacterial infections due to MyD88 deficiency	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 70985097.	NM_002468.5(MYD88):c.270C>G (p.Leu90=) GRCh37: Chr3:38180461 GRCh38: Chr3:38138970	MYD88		Pyogenic bacterial infections due to MyD88 deficiency	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 66052698.	NM_002468.5(MYD88):c.212C>T (p.Thr71Ile) GRCh37: Chr3:38180403 GRCh38: Chr3:38138912	MYD88	T71I	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 65393699.	NM_002468.5(MYD88):c.754C>G (p.Leu252Val) GRCh37: Chr3:38182640 GRCh38: Chr3:38141149	MYD88	L207V, D191E, D245E, L260V, D146E, D200E, L252V	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 639601100.	NM_002468.5(MYD88):c.113A>G (p.Asn38Ser) GRCh37: Chr3:38180304 GRCh38: Chr3:38138813	MYD88	N38S	Pyogenic bacterial infections due to MyD88 deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter

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