ClinVar for MedGen (Select 75728) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022741.	NM_001136472.2(LITAF):c.403C>G (p.Pro135Ala) GRCh37: Chr16:11643576 GRCh38: Chr16:11549720	LITAF	P135A	Charcot-Marie-Tooth disease type 1C	Likely pathogenic (Dec 22, 2022)	criteria provided, single submitter
Select item 24281562.	NM_001136472.2(LITAF):c.483G>C (p.Leu161Phe) GRCh37: Chr16:11643496 GRCh38: Chr16:11549640	LITAF	L161F	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 24252363.	NC_000016.9:g.(?_11647369)_(11647565_?)dup GRCh37: Chr16:11647369-11647565	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 21948304.	NM_001136472.2(LITAF):c.176C>G (p.Pro59Arg) GRCh37: Chr16:11650411 GRCh38: Chr16:11556555	LITAF	P59R	Charcot-Marie-Tooth disease type 1C	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 21638315.	NM_001136472.2(LITAF):c.450C>G (p.Asn150Lys) GRCh37: Chr16:11643529 GRCh38: Chr16:11549673	LITAF	N150K	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 21578836.	NM_001136472.2(LITAF):c.270C>T (p.Arg90=) GRCh37: Chr16:11647496 GRCh38: Chr16:11553640	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 21410947.	NM_001136472.2(LITAF):c.5C>T (p.Ser2Leu) GRCh37: Chr16:11650582 GRCh38: Chr16:11556726	LITAF	S2L	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 21204878.	NM_001136472.2(LITAF):c.149G>T (p.Gly50Val) GRCh37: Chr16:11650438 GRCh38: Chr16:11556582	LITAF	G50V	Charcot-Marie-Tooth disease type 1C	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 21174629.	NM_001136472.2(LITAF):c.3G>T (p.Met1Ile) GRCh37: Chr16:11650584 GRCh38: Chr16:11556728	LITAF	M1I	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211672310.	NM_001136472.2(LITAF):c.382A>G (p.Ile128Val) GRCh37: Chr16:11643597 GRCh38: Chr16:11549741	LITAF	I128V	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 208015711.	NM_001136472.2(LITAF):c.387G>A (p.Ala129=) GRCh37: Chr16:11643592 GRCh38: Chr16:11549736	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 205507312.	NM_001136472.2(LITAF):c.358G>A (p.Gly120Arg) GRCh37: Chr16:11647408 GRCh38: Chr16:11553552	LITAF	G120R	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204488113.	NM_001136472.2(LITAF):c.392G>A (p.Cys131Tyr) GRCh37: Chr16:11643587 GRCh38: Chr16:11549731	LITAF	C131Y	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 200520414.	NM_001136472.2(LITAF):c.450C>A (p.Asn150Lys) GRCh37: Chr16:11643529 GRCh38: Chr16:11549673	LITAF	N150K	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 198629515.	NM_001136472.2(LITAF):c.381C>T (p.Cys127=) GRCh37: Chr16:11643598 GRCh38: Chr16:11549742	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 196305116.	NM_001136472.2(LITAF):c.56C>T (p.Ala19Val) GRCh37: Chr16:11650531 GRCh38: Chr16:11556675	LITAF	A19V	Charcot-Marie-Tooth disease type 1C	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 195215717.	NM_001136472.2(LITAF):c.284G>A (p.Cys95Tyr) GRCh37: Chr16:11647482 GRCh38: Chr16:11553626	LITAF	C95Y	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 193175318.	NM_001136472.2(LITAF):c.129A>G (p.Pro43=) GRCh37: Chr16:11650458 GRCh38: Chr16:11556602	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 174534019.	NM_001136472.2(LITAF):c.50C>T (p.Pro17Leu) GRCh37: Chr16:11650537 GRCh38: Chr16:11556681	LITAF	P17L	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 171811820.	NM_001136472.2(LITAF):c.143T>C (p.Val48Ala) GRCh37: Chr16:11650444 GRCh38: Chr16:11556588	LITAF	V48A	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 162484121.	NM_001136472.2(LITAF):c.12A>G (p.Pro4=) GRCh37: Chr16:11650575 GRCh38: Chr16:11556719	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 161141122.	NM_001136472.2(LITAF):c.99C>T (p.Tyr33=) GRCh37: Chr16:11650488 GRCh38: Chr16:11556632	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 161139523.	NM_001136472.2(LITAF):c.377+10C>T GRCh37: Chr16:11647379 GRCh38: Chr16:11553523	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Oct 17, 2021)	criteria provided, single submitter
Select item 160684124.	NM_001136472.2(LITAF):c.481T>C (p.Leu161=) GRCh37: Chr16:11643498 GRCh38: Chr16:11549642	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 154188325.	NM_001136472.2(LITAF):c.420C>T (p.Ala140=) GRCh37: Chr16:11643559 GRCh38: Chr16:11549703	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 154143426.	NM_001136472.2(LITAF):c.364C>T (p.Leu122=) GRCh37: Chr16:11647402 GRCh38: Chr16:11553546	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Mar 16, 2021)	criteria provided, single submitter
Select item 152938527.	NM_001136472.2(LITAF):c.102C>A (p.Pro34=) GRCh37: Chr16:11650485 GRCh38: Chr16:11556629	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (May 17, 2021)	criteria provided, single submitter
Select item 148769228.	NM_001136472.2(LITAF):c.407T>C (p.Phe136Ser) GRCh37: Chr16:11643572 GRCh38: Chr16:11549716	LITAF	F136S	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 148615329.	NM_001136472.2(LITAF):c.332C>T (p.Ala111Val) GRCh37: Chr16:11647434 GRCh38: Chr16:11553578	LITAF	A111V	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148051230.	NC_000016.9:g.(?_8829597)_(11650586_?)dup GRCh37: Chr16:8829597-11650586	PRM3, TEKT5, TMEM186, RMI2, TNP2, TVP23A, USP7, SOCS1, ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2		MHC class II deficiency, Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 147026031.	NM_001136472.2(LITAF):c.409T>G (p.Cys137Gly) GRCh37: Chr16:11643570 GRCh38: Chr16:11549714	LITAF	C137G	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 146498832.	NM_001136472.2(LITAF):c.448A>C (p.Asn150His) GRCh37: Chr16:11643531 GRCh38: Chr16:11549675	LITAF	N150H	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 141128733.	NC_000016.9:g.(?_11643493)_(11650586_?)del GRCh37: Chr16:11643493-11650586	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 140528834.	NM_001136472.2(LITAF):c.233C>T (p.Thr78Met) GRCh37: Chr16:11647533 GRCh38: Chr16:11553677	LITAF	T78M	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 138629035.	NM_001136472.2(LITAF):c.173C>T (p.Pro58Leu) GRCh37: Chr16:11650414 GRCh38: Chr16:11556558	LITAF	P58L	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 135509136.	NM_001136472.2(LITAF):c.389G>C (p.Gly130Ala) GRCh37: Chr16:11643590 GRCh38: Chr16:11549734	LITAF	G130A	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 134788337.	NM_001136472.2(LITAF):c.182A>G (p.Tyr61Cys) GRCh37: Chr16:11650405 GRCh38: Chr16:11556549	LITAF	Y61C	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 112716338.	NM_001136472.2(LITAF):c.225C>T (p.Thr75=) GRCh37: Chr16:11647541 GRCh38: Chr16:11553685	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 112551939.	NM_001136472.2(LITAF):c.243G>A (p.Val81=) GRCh37: Chr16:11647523 GRCh38: Chr16:11553667	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 106350340.	NM_001136472.2(LITAF):c.*185T>C GRCh37: Chr16:11643308 GRCh38: Chr16:11549452	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 105256441.	NM_001136472.2(LITAF):c.46G>T (p.Ala16Ser) GRCh37: Chr16:11650541 GRCh38: Chr16:11556685	LITAF	A16S	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 104313242.	NM_001136472.2(LITAF):c.197C>T (p.Ala66Val) GRCh37: Chr16:11650390 GRCh38: Chr16:11556534	LITAF	A66V	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 103840543.	NM_001136472.2(LITAF):c.473A>G (p.Tyr158Cys) GRCh37: Chr16:11643506 GRCh38: Chr16:11549650	LITAF	Y158C	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 103478844.	NM_001136472.2(LITAF):c.168del (p.Met56fs) GRCh37: Chr16:11650419 GRCh38: Chr16:11556563	LITAF	M56fs	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Apr 29, 2020)	criteria provided, single submitter
Select item 102523445.	NM_001136472.2(LITAF):c.283T>C (p.Cys95Arg) GRCh37: Chr16:11647483 GRCh38: Chr16:11553627	LITAF	C95R	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 102459546.	NC_000016.9:g.(?_11650347)_(11650606_?)del GRCh37: Chr16:11650347-11650606	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 97004647.	NM_001136472.2(LITAF):c.310G>T (p.Val104Leu) GRCh37: Chr16:11647456 GRCh38: Chr16:11553600	LITAF	V104L	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 96802948.	NM_001136472.2(LITAF):c.124G>T (p.Gly42Trp) GRCh37: Chr16:11650463 GRCh38: Chr16:11556607	LITAF	G42W	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C	Uncertain significance (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95454649.	NM_001136472.2(LITAF):c.409T>C (p.Cys137Arg) GRCh37: Chr16:11643570 GRCh38: Chr16:11549714	LITAF	C137R	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 94566950.	NM_001136472.2(LITAF):c.26C>T (p.Ala9Val) GRCh37: Chr16:11650561 GRCh38: Chr16:11556705	LITAF	A9V	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 94485451.	NM_001136472.2(LITAF):c.157G>A (p.Gly53Arg) GRCh37: Chr16:11650430 GRCh38: Chr16:11556574	LITAF	G53R	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 94415552.	NM_001136472.2(LITAF):c.55G>A (p.Ala19Thr) GRCh37: Chr16:11650532 GRCh38: Chr16:11556676	LITAF	A19T	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 93591553.	NM_001136472.2(LITAF):c.220+4C>T GRCh37: Chr16:11650363 GRCh38: Chr16:11556507	LITAF		Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91734954.	NM_001136472.2(LITAF):c.221-16C>T GRCh37: Chr16:11647561 GRCh38: Chr16:11553705	LITAF		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C	Likely benign (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91734855.	NM_001136472.2(LITAF):c.377+3G>A GRCh37: Chr16:11647386 GRCh38: Chr16:11553530	LITAF		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C	Likely benign (May 29, 2020)	criteria provided, multiple submitters, no conflicts
Select item 91734756.	NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser) GRCh37: Chr16:11650388 GRCh38: Chr16:11556532	LITAF	P67S	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91711657.	NM_001136472.2(LITAF):c.269G>A (p.Arg90His) GRCh37: Chr16:11647497 GRCh38: Chr16:11553641	LITAF	R90H	Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88796758.	NM_001136472.2(LITAF):c.-6+513G>C GRCh37: Chr16:11680229 GRCh38: Chr16:11586373	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Apr 6, 2018)	criteria provided, single submitter
Select item 88796659.	NM_001136472.2(LITAF):c.-6+618C>G GRCh37: Chr16:11680124 GRCh38: Chr16:11586268	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88790760.	NM_001136472.2(LITAF):c.*234C>A GRCh37: Chr16:11643259 GRCh38: Chr16:11549403	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88790661.	NM_001136472.2(LITAF):c.*500A>G GRCh37: Chr16:11642993 GRCh38: Chr16:11549137	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88790562.	NM_001136472.2(LITAF):c.*563A>C GRCh37: Chr16:11642930 GRCh38: Chr16:11549074	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88570463.	NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr) GRCh37: Chr16:11647398 GRCh38: Chr16:11553542	LITAF	C123Y	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88564364.	NM_001136472.2(LITAF):c.*1054A>C GRCh37: Chr16:11642439 GRCh38: Chr16:11548583	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88564265.	NM_001136472.2(LITAF):c.*1217A>C GRCh37: Chr16:11642276 GRCh38: Chr16:11548420	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88564166.	NM_001136472.2(LITAF):c.*1364A>C GRCh37: Chr16:11642129 GRCh38: Chr16:11548273	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88564067.	NM_001136472.2(LITAF):c.*1386G>A GRCh37: Chr16:11642107 GRCh38: Chr16:11548251	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88563968.	NM_001136472.2(LITAF):c.*1399C>A GRCh37: Chr16:11642094 GRCh38: Chr16:11548238	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88475969.	NM_001136472.2(LITAF):c.*33G>A GRCh37: Chr16:11643460 GRCh38: Chr16:11549604	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88470270.	NM_001136472.2(LITAF):c.*1422A>G GRCh37: Chr16:11642071 GRCh38: Chr16:11548215	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88470171.	NM_001136472.2(LITAF):c.*1436T>G GRCh37: Chr16:11642057 GRCh38: Chr16:11548201	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88470072.	NM_001136472.2(LITAF):c.*1632C>G GRCh37: Chr16:11641861 GRCh38: Chr16:11548005	LITAF		Charcot-Marie-Tooth disease type 1C	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88469973.	NM_001136472.2(LITAF):c.*1879A>G GRCh37: Chr16:11641614 GRCh38: Chr16:11547758	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87238274.	NM_001136472.2(LITAF):c.378-7C>T GRCh37: Chr16:11643608 GRCh38: Chr16:11549752	LITAF		not provided, Charcot-Marie-Tooth disease type 1C	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 85250475.	NM_001136472.2(LITAF):c.430G>T (p.Val144Leu) GRCh37: Chr16:11643549 GRCh38: Chr16:11549693	LITAF	V144L	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 85219176.	NM_001136472.2(LITAF):c.374T>C (p.Leu125Pro) GRCh37: Chr16:11647392 GRCh38: Chr16:11553536	LITAF	L125P	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 85154177.	NM_001136472.2(LITAF):c.17C>T (p.Pro6Leu) GRCh37: Chr16:11650570 GRCh38: Chr16:11556714	LITAF	P6L	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 83497578.	NM_001136472.2(LITAF):c.172C>T (p.Pro58Ser) GRCh37: Chr16:11650415 GRCh38: Chr16:11556559	LITAF	P58S	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 83084379.	NC_000016.10:g.(?_11549637)_(11556730_?)dup GRCh37: Chr16:11643493-11650586	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 4, 2019)	criteria provided, single submitter
Select item 79260780.	NM_001136472.2(LITAF):c.32C>T (p.Thr11Ile) GRCh37: Chr16:11650555 GRCh38: Chr16:11556699	LITAF	T11I	Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases	Likely benign (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76552981.	NM_001136472.2(LITAF):c.39T>G (p.Pro13=) GRCh37: Chr16:11650548 GRCh38: Chr16:11556692	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 75583082.	NM_001136472.2(LITAF):c.399C>T (p.Phe133=) GRCh37: Chr16:11643580 GRCh38: Chr16:11549724	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Mar 18, 2018)	criteria provided, single submitter
Select item 70623383.	NM_001136472.2(LITAF):c.369C>T (p.Cys123=) GRCh37: Chr16:11647397 GRCh38: Chr16:11553541	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Sep 20, 2018)	criteria provided, single submitter
Select item 70177884.	NM_001136472.2(LITAF):c.411C>T (p.Cys137=) GRCh37: Chr16:11643568 GRCh38: Chr16:11549712	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Nov 27, 2019)	criteria provided, single submitter
Select item 70102085.	NM_001136472.2(LITAF):c.96T>C (p.Tyr32=) GRCh37: Chr16:11650491 GRCh38: Chr16:11556635	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 69836186.	NM_001136472.2(LITAF):c.351G>C (p.Leu117=) GRCh37: Chr16:11647415 GRCh38: Chr16:11553559	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Nov 6, 2021)	criteria provided, single submitter
Select item 69718487.	NM_001136472.2(LITAF):c.198G>A (p.Ala66=) GRCh37: Chr16:11650389 GRCh38: Chr16:11556533	LITAF		Charcot-Marie-Tooth disease type 1C	Likely benign (Jun 17, 2021)	criteria provided, single submitter
Select item 69595188.	NM_001136472.2(LITAF):c.357C>T (p.Cys119=) GRCh37: Chr16:11647409 GRCh38: Chr16:11553553	LITAF		Charcot-Marie-Tooth disease type 1C, not provided, Charcot-Marie-Tooth disease	Benign/Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68305889.	NM_001136472.2(LITAF):c.220+42C>T GRCh37: Chr16:11650325 GRCh38: Chr16:11556469	LITAF		not provided, Charcot-Marie-Tooth disease type 1C	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66539590.	NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro) GRCh37: Chr16:11647395 GRCh38: Chr16:11553539	LITAF	L124P	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 66483491.	NM_001136472.2(LITAF):c.404C>T (p.Pro135Leu) GRCh37: Chr16:11643575 GRCh38: Chr16:11549719	LITAF	P135L	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 65749792.	NM_001136472.2(LITAF):c.223A>G (p.Thr75Ala) GRCh37: Chr16:11647543 GRCh38: Chr16:11553687	LITAF	T75A	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 65674893.	NM_001136472.2(LITAF):c.424C>T (p.Gln142Ter) GRCh37: Chr16:11643555 GRCh38: Chr16:11549699	LITAF	Q142*	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 13, 2018)	criteria provided, single submitter
Select item 65439194.	NM_001136472.2(LITAF):c.236T>C (p.Val79Ala) GRCh37: Chr16:11647530 GRCh38: Chr16:11553674	LITAF	V79A	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 65063695.	NM_001136472.2(LITAF):c.468C>T (p.Gly156=) GRCh37: Chr16:11643511 GRCh38: Chr16:11549655	LITAF		Charcot-Marie-Tooth disease type 1C	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 64877696.	NM_001136472.2(LITAF):c.310G>A (p.Val104Met) GRCh37: Chr16:11647456 GRCh38: Chr16:11553600	LITAF	V104M	Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 64242697.	NM_001136472.2(LITAF):c.239A>G (p.Tyr80Cys) GRCh37: Chr16:11647527 GRCh38: Chr16:11553671	LITAF	Y80C	Charcot-Marie-Tooth disease type 1C	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64126698.	NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) GRCh37: Chr16:11647498 GRCh38: Chr16:11553642	LITAF	R90C	not specified, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64074499.	NM_001136472.2(LITAF):c.412G>A (p.Val138Met) GRCh37: Chr16:11643567 GRCh38: Chr16:11549711	LITAF	V138M	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Aug 8, 2022)	criteria provided, conflicting interpretations
Select item 639258100.	NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) GRCh37: Chr16:11647435 GRCh38: Chr16:11553579	LITAF	A111T	not provided, Charcot-Marie-Tooth disease type 1C	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations

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