ClinVar for MedGen (Select 373095) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25809951.	NM_001101362.3(KBTBD13):c.261C>A (p.Phe87Leu) GRCh37: Chr15:65369414 GRCh38: Chr15:65077076	KBTBD13	F87L	Nemaline myopathy 6	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 24329842.	NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln) GRCh37: Chr15:65369329-65369330 GRCh38: Chr15:65076991-65076992	KBTBD13	R59Q	Nemaline myopathy 6	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 24329823.	NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala) GRCh37: Chr15:65369503 GRCh38: Chr15:65077165	KBTBD13	G117A	Nemaline myopathy 6	Uncertain significance (Nov 28, 2022)	criteria provided, single submitter
Select item 24329814.	NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg) GRCh37: Chr15:65369319 GRCh38: Chr15:65076981	KBTBD13	G56R	Nemaline myopathy 6	Uncertain significance (Dec 30, 2020)	criteria provided, single submitter
Select item 24200265.	NM_001101362.3(KBTBD13):c.987G>A (p.Ala329=) GRCh37: Chr15:65370140 GRCh38: Chr15:65077802	KBTBD13		Nemaline myopathy 6	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 24176376.	NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val) GRCh37: Chr15:65369767 GRCh38: Chr15:65077429	KBTBD13	A205V	Nemaline myopathy 6	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 24135277.	NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln) GRCh37: Chr15:65370475 GRCh38: Chr15:65078137	KBTBD13	L441Q	Nemaline myopathy 6	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 21958678.	NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val) GRCh37: Chr15:65370340 GRCh38: Chr15:65078002	KBTBD13	A396V	Nemaline myopathy 6, not provided	Uncertain significance (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21954189.	NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly) GRCh37: Chr15:65369293 GRCh38: Chr15:65076955	KBTBD13	E47G	Nemaline myopathy 6	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219398110.	NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter) GRCh37: Chr15:65369445 GRCh38: Chr15:65077107	KBTBD13	E98*	Nemaline myopathy 6	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 219336011.	NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys) GRCh37: Chr15:65370201 GRCh38: Chr15:65077863	KBTBD13	R350C	Nemaline myopathy 6	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 218907612.	NM_001101362.3(KBTBD13):c.142G>T (p.Val48Leu) GRCh37: Chr15:65369295 GRCh38: Chr15:65076957	KBTBD13	V48L	Nemaline myopathy 6	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 218537013.	NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser) GRCh37: Chr15:65369733 GRCh38: Chr15:65077395	KBTBD13	P194S	Nemaline myopathy 6	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 218536714.	NM_001101362.3(KBTBD13):c.1299C>T (p.Pro433=) GRCh37: Chr15:65370452 GRCh38: Chr15:65078114	KBTBD13		Nemaline myopathy 6	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 218296815.	NM_001101362.3(KBTBD13):c.225G>A (p.Glu75=) GRCh37: Chr15:65369378 GRCh38: Chr15:65077040	KBTBD13		Nemaline myopathy 6	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 217980816.	NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser) GRCh37: Chr15:65369352 GRCh38: Chr15:65077014	KBTBD13	G67S	Nemaline myopathy 6	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 217363217.	NM_001101362.3(KBTBD13):c.1264C>A (p.Arg422=) GRCh37: Chr15:65370417 GRCh38: Chr15:65078079	KBTBD13		Nemaline myopathy 6	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 217137118.	NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr) GRCh37: Chr15:65370039 GRCh38: Chr15:65077701	KBTBD13	A296T	Nemaline myopathy 6	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 216001419.	NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu) GRCh37: Chr15:65369327 GRCh38: Chr15:65076989	KBTBD13	F58L	Inborn genetic diseases, Nemaline myopathy 6	Uncertain significance (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215971420.	NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn) GRCh37: Chr15:65369853 GRCh38: Chr15:65077515	KBTBD13	D234N	Nemaline myopathy 6	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 215891521.	NM_001101362.3(KBTBD13):c.654C>T (p.Arg218=) GRCh37: Chr15:65369807 GRCh38: Chr15:65077469	KBTBD13		Nemaline myopathy 6	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 215701222.	NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr) GRCh37: Chr15:65369937 GRCh38: Chr15:65077599	KBTBD13	A262T	Nemaline myopathy 6	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 215629923.	NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp) GRCh37: Chr15:65370154 GRCh38: Chr15:65077816	KBTBD13	A334D	Nemaline myopathy 6	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215508724.	NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys) GRCh37: Chr15:65370178 GRCh38: Chr15:65077840	KBTBD13	Y342C	Nemaline myopathy 6, Inborn genetic diseases	Uncertain significance (Apr 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215432125.	NM_001101362.3(KBTBD13):c.141G>A (p.Glu47=) GRCh37: Chr15:65369294 GRCh38: Chr15:65076956	KBTBD13		Nemaline myopathy 6	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 215410926.	NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser) GRCh37: Chr15:65370303 GRCh38: Chr15:65077965	KBTBD13	G384S	Nemaline myopathy 6	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 215396427.	NM_001101362.3(KBTBD13):c.867C>T (p.Ala289=) GRCh37: Chr15:65370020 GRCh38: Chr15:65077682	KBTBD13		Nemaline myopathy 6	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 215347128.	NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu) GRCh37: Chr15:65369178 GRCh38: Chr15:65076840	KBTBD13	V9L	Nemaline myopathy 6	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215000329.	NM_001101362.3(KBTBD13):c.21C>T (p.Thr7=) GRCh37: Chr15:65369174 GRCh38: Chr15:65076836	KBTBD13		Nemaline myopathy 6	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 214872030.	NM_001101362.3(KBTBD13):c.370A>G (p.Ser124Gly) GRCh37: Chr15:65369523 GRCh38: Chr15:65077185	KBTBD13	S124G	Nemaline myopathy 6	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 214843031.	NM_001101362.3(KBTBD13):c.931C>T (p.Leu311=) GRCh37: Chr15:65370084 GRCh38: Chr15:65077746	KBTBD13		Nemaline myopathy 6	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214514732.	NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met) GRCh37: Chr15:65369184 GRCh38: Chr15:65076846	KBTBD13	V11M	Nemaline myopathy 6	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 214433833.	NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro) GRCh37: Chr15:65369331 GRCh38: Chr15:65076993	KBTBD13	A60P	Nemaline myopathy 6	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 214220234.	NM_001101362.3(KBTBD13):c.133G>T (p.Ala45Ser) GRCh37: Chr15:65369286 GRCh38: Chr15:65076948	KBTBD13	A45S	Nemaline myopathy 6	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 214214235.	NM_001101362.3(KBTBD13):c.138A>C (p.Ala46=) GRCh37: Chr15:65369291 GRCh38: Chr15:65076953	KBTBD13		Nemaline myopathy 6	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 214088136.	NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro) GRCh37: Chr15:65369176 GRCh38: Chr15:65076838	KBTBD13	L8P	Nemaline myopathy 6	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 212902437.	NM_001101362.3(KBTBD13):c.62A>C (p.Asp21Ala) GRCh37: Chr15:65369215 GRCh38: Chr15:65076877	KBTBD13	D21A	Nemaline myopathy 6	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 212490438.	NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr) GRCh37: Chr15:65370427 GRCh38: Chr15:65078089	KBTBD13	R425T	Nemaline myopathy 6	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 212446039.	NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys) GRCh37: Chr15:65370222 GRCh38: Chr15:65077884	KBTBD13	R357C	Nemaline myopathy 6	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 212332940.	NM_001101362.3(KBTBD13):c.1206C>A (p.Thr402=) GRCh37: Chr15:65370359 GRCh38: Chr15:65078021	KBTBD13		Nemaline myopathy 6	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211902741.	NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter) GRCh37: Chr15:65369597 GRCh38: Chr15:65077259	KBTBD13	Y148*	Nemaline myopathy 6	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211728742.	NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His) GRCh37: Chr15:65370173 GRCh38: Chr15:65077835	KBTBD13	Q340H	Nemaline myopathy 6	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211040243.	NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs) GRCh37: Chr15:65370373-65370374 GRCh38: Chr15:65078035-65078036	KBTBD13	R408fs	Nemaline myopathy 6	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 210543344.	NM_001101362.3(KBTBD13):c.378_379delinsTG (p.Leu127Val) GRCh37: Chr15:65369531-65369532 GRCh38: Chr15:65077193-65077194	KBTBD13	L127V	Nemaline myopathy 6	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 208891045.	NM_001101362.3(KBTBD13):c.165G>A (p.Ala55=) GRCh37: Chr15:65369318 GRCh38: Chr15:65076980	KBTBD13		Nemaline myopathy 6	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 208834946.	NM_001101362.3(KBTBD13):c.456_457delinsAA (p.Leu152_Arg153=) GRCh37: Chr15:65369609-65369610 GRCh38: Chr15:65077271-65077272	KBTBD13		Nemaline myopathy 6	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 208385847.	NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val) GRCh37: Chr15:65369422 GRCh38: Chr15:65077084	KBTBD13	A90V	Nemaline myopathy 6	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 208305848.	NM_001101362.3(KBTBD13):c.519C>T (p.Ala173=) GRCh37: Chr15:65369672 GRCh38: Chr15:65077334	KBTBD13		Nemaline myopathy 6	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 208262849.	NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro) GRCh37: Chr15:65369299 GRCh38: Chr15:65076961	KBTBD13	R49P	Nemaline myopathy 6	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 207757850.	NM_001101362.3(KBTBD13):c.792C>T (p.Gly264=) GRCh37: Chr15:65369945 GRCh38: Chr15:65077607	KBTBD13		Nemaline myopathy 6	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207407951.	NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly) GRCh37: Chr15:65369553 GRCh38: Chr15:65077215	KBTBD13	R134G	Nemaline myopathy 6	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 206373652.	NM_001101362.3(KBTBD13):c.121C>A (p.Arg41=) GRCh37: Chr15:65369274 GRCh38: Chr15:65076936	KBTBD13		Nemaline myopathy 6	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 205776153.	NM_001101362.3(KBTBD13):c.1080T>A (p.Pro360=) GRCh37: Chr15:65370233 GRCh38: Chr15:65077895	KBTBD13		Nemaline myopathy 6	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 205746554.	NM_001101362.3(KBTBD13):c.1002C>G (p.Ala334=) GRCh37: Chr15:65370155 GRCh38: Chr15:65077817	KBTBD13		Nemaline myopathy 6	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 205737855.	NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu) GRCh37: Chr15:65369371 GRCh38: Chr15:65077033	KBTBD13	A73E	Nemaline myopathy 6	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205705056.	NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp) GRCh37: Chr15:65369378 GRCh38: Chr15:65077040	KBTBD13	E75D	Nemaline myopathy 6	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 204127657.	NM_001101362.3(KBTBD13):c.1225A>C (p.Met409Leu) GRCh37: Chr15:65370378 GRCh38: Chr15:65078040	KBTBD13	M409L	Nemaline myopathy 6	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 203962358.	NM_001101362.3(KBTBD13):c.474G>A (p.Ala158=) GRCh37: Chr15:65369627 GRCh38: Chr15:65077289	KBTBD13		Nemaline myopathy 6	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 202654459.	NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg) GRCh37: Chr15:65369236 GRCh38: Chr15:65076898	KBTBD13	H28R	Nemaline myopathy 6	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 201750060.	NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg) GRCh37: Chr15:65369893 GRCh38: Chr15:65077555	KBTBD13	P247R	Nemaline myopathy 6	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 201292361.	NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp) GRCh37: Chr15:65369587 GRCh38: Chr15:65077249	KBTBD13	A145D	Nemaline myopathy 6	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 201039162.	NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=) GRCh37: Chr15:65370362 GRCh38: Chr15:65078024	KBTBD13		Nemaline myopathy 6	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200841663.	NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly) GRCh37: Chr15:65369328 GRCh38: Chr15:65076990	KBTBD13	R59G	Nemaline myopathy 6	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 200624064.	NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=) GRCh37: Chr15:65369996 GRCh38: Chr15:65077658	KBTBD13		Nemaline myopathy 6	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 199003165.	NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs) GRCh37: Chr15:65369624-65369625 GRCh38: Chr15:65077286-65077287	KBTBD13	A158fs	Nemaline myopathy 6	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 199003066.	NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr) GRCh37: Chr15:65369742 GRCh38: Chr15:65077404	KBTBD13	A197T	Nemaline myopathy 6	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 198682667.	NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro) GRCh37: Chr15:65369359 GRCh38: Chr15:65077021	KBTBD13	R69P	Nemaline myopathy 6	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 197551968.	NM_001101362.3(KBTBD13):c.458G>A (p.Arg153Gln) GRCh37: Chr15:65369611 GRCh38: Chr15:65077273	KBTBD13	R153Q	Inborn genetic diseases, Nemaline myopathy 6	Conflicting interpretations of pathogenicity (Jan 24, 2023)	criteria provided, conflicting interpretations
Select item 197236669.	NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln) GRCh37: Chr15:65369445 GRCh38: Chr15:65077107	KBTBD13	E98Q	Nemaline myopathy 6	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 196967370.	NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His) GRCh37: Chr15:65369806 GRCh38: Chr15:65077468	KBTBD13	R218H	Nemaline myopathy 6	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 196915671.	NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe) GRCh37: Chr15:65369256 GRCh38: Chr15:65076918	KBTBD13	L35F	Nemaline myopathy 6	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 196590972.	NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His) GRCh37: Chr15:65369716 GRCh38: Chr15:65077378	KBTBD13	R188H	Nemaline myopathy 6	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 196458173.	NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser) GRCh37: Chr15:65369859 GRCh38: Chr15:65077521	KBTBD13	G236S	Nemaline myopathy 6	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 195167674.	NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser) GRCh37: Chr15:65370187 GRCh38: Chr15:65077849	KBTBD13	C345S	Nemaline myopathy 6	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 195023175.	NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His) GRCh37: Chr15:65369329 GRCh38: Chr15:65076991	KBTBD13	R59H	Nemaline myopathy 6	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 193734376.	NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln) GRCh37: Chr15:65369382 GRCh38: Chr15:65077044	KBTBD13	E77Q	Nemaline myopathy 6	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 192702677.	NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly) GRCh37: Chr15:65369250 GRCh38: Chr15:65076912	KBTBD13	R33G	Nemaline myopathy 6	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 192318178.	NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly) GRCh37: Chr15:65369344 GRCh38: Chr15:65077006	KBTBD13	V64G	Nemaline myopathy 6	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 192029579.	NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met) GRCh37: Chr15:65369793 GRCh38: Chr15:65077455	KBTBD13	V214M	Nemaline myopathy 6	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 191703180.	NM_001101362.3(KBTBD13):c.783C>T (p.Tyr261=) GRCh37: Chr15:65369936 GRCh38: Chr15:65077598	KBTBD13		Nemaline myopathy 6	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 191360281.	NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly) GRCh37: Chr15:65369745 GRCh38: Chr15:65077407	KBTBD13	S198G	Nemaline myopathy 6	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 191275582.	NM_001101362.3(KBTBD13):c.662G>A (p.Ser221Asn) GRCh37: Chr15:65369815 GRCh38: Chr15:65077477	KBTBD13	S221N	Nemaline myopathy 6	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 191060983.	NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met) GRCh37: Chr15:65369680 GRCh38: Chr15:65077342	KBTBD13	T176M	Nemaline myopathy 6, Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190898784.	NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His) GRCh37: Chr15:65369484 GRCh38: Chr15:65077146	KBTBD13	D111H	Nemaline myopathy 6	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 190575885.	NM_001101362.3(KBTBD13):c.1233G>A (p.Thr411=) GRCh37: Chr15:65370386 GRCh38: Chr15:65078048	KBTBD13		Nemaline myopathy 6	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 181155186.	NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu) GRCh37: Chr15:65369488 GRCh38: Chr15:65077150	KBTBD13	A112E	Nemaline myopathy 6, not specified	Uncertain significance (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172072287.	NM_001101362.3(KBTBD13):c.892G>C (p.Val298Leu) GRCh37: Chr15:65370045 GRCh38: Chr15:65077707	KBTBD13	V298L	Nemaline myopathy 6	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 171968588.	NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu) GRCh37: Chr15:65369921 GRCh38: Chr15:65077583	KBTBD13	F256L	Nemaline myopathy 6	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 171745589.	NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp) GRCh37: Chr15:65369585 GRCh38: Chr15:65077247	KBTBD13	E144D	Nemaline myopathy 6	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 171539090.	NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu) GRCh37: Chr15:65369218 GRCh38: Chr15:65076880	KBTBD13	R22L	Nemaline myopathy 6	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 170911891.	NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn) GRCh37: Chr15:65370323 GRCh38: Chr15:65077985	KBTBD13	K390N	not provided, Nemaline myopathy 6	Likely pathogenic (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169909192.	NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs) GRCh37: Chr15:65369998-65369999 GRCh38: Chr15:65077660-65077661	KBTBD13	C284fs	Nemaline myopathy 6	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 167436393.	NM_001101362.3(KBTBD13):c.657C>A (p.Gly219=) GRCh37: Chr15:65369810 GRCh38: Chr15:65077472	KBTBD13		Nemaline myopathy 6	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 167391894.	NM_001101362.3(KBTBD13):c.418C>T (p.Leu140=) GRCh37: Chr15:65369571 GRCh38: Chr15:65077233	KBTBD13		Nemaline myopathy 6	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 167348695.	NM_001101362.3(KBTBD13):c.165G>C (p.Ala55=) GRCh37: Chr15:65369318 GRCh38: Chr15:65076980	KBTBD13		Nemaline myopathy 6	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 166400996.	NM_001101362.3(KBTBD13):c.485C>T (p.Thr162Met) GRCh37: Chr15:65369638 GRCh38: Chr15:65077300	KBTBD13	T162M	Nemaline myopathy 6	Likely benign (Sep 28, 2021)	criteria provided, single submitter
Select item 166197897.	NM_001101362.3(KBTBD13):c.1218C>T (p.Val406=) GRCh37: Chr15:65370371 GRCh38: Chr15:65078033	KBTBD13		Nemaline myopathy 6	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 166036498.	NM_001101362.3(KBTBD13):c.1241A>G (p.Tyr414Cys) GRCh37: Chr15:65370394 GRCh38: Chr15:65078056	KBTBD13	Y414C	Nemaline myopathy 6	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 165929599.	NM_001101362.3(KBTBD13):c.1206C>G (p.Thr402=) GRCh37: Chr15:65370359 GRCh38: Chr15:65078021	KBTBD13		Nemaline myopathy 6	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 1643339100.	NM_001101362.3(KBTBD13):c.921C>A (p.Leu307=) GRCh37: Chr15:65370074 GRCh38: Chr15:65077736	KBTBD13		Nemaline myopathy 6	Likely benign (Oct 9, 2021)	criteria provided, single submitter

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