51524[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1504571.	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3 GRCh37: Chr11:60948809-61284302 GRCh38: Chr11:61181337-61516830	CPSF7, CYB561A3, DDB1, LOC105369329, LOC121392920, LOC126861223, LOC126861224, LOC129390287, LOC130005797, LOC130005798, LOC130005799, LOC130005800, LOC130005801, LRRC10B, MIR4488, PGA3, PGA4, PGA5, SAXO4, SDHAF2, SYT7, TKFC, TMEM138, TMEM216, VWCE		See cases	Uncertain significance (Sep 21, 2012)	no assertion criteria provided
Select item 3050462.	NM_016464.4(TMEM138):c.-520_-518delTCC GRCh37: Chr11:61129511-61129513 GRCh38: Chr11:61362039-61362041	CYB561A3, TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3050473.	NM_016464.4(TMEM138):c.-518C>T GRCh37: Chr11:61129514 GRCh38: Chr11:61362042	CYB561A3, TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3050484.	NM_016464.4(TMEM138):c.-479A>C GRCh37: Chr11:61129553 GRCh38: Chr11:61362081	CYB561A3, TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3050495.	NM_016464.4(TMEM138):c.-350A>C GRCh37: Chr11:61129682 GRCh38: Chr11:61362210	CYB561A3, TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3050506.	NM_016464.4(TMEM138):c.-308A>G GRCh37: Chr11:61129724 GRCh38: Chr11:61362252	CYB561A3, TMEM138		Familial aplasia of the vermis	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3050517.	NM_016464.4(TMEM138):c.-304C>A GRCh37: Chr11:61129728 GRCh38: Chr11:61362256	CYB561A3, TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3050528.	NM_016464.4(TMEM138):c.-294G>A GRCh37: Chr11:61129738 GRCh38: Chr11:61362266	CYB561A3, TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3050539.	NM_016464.4(TMEM138):c.-255C>T GRCh37: Chr11:61129777 GRCh38: Chr11:61362305	TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30505410.	NM_016464.4(TMEM138):c.-239C>T GRCh37: Chr11:61129793 GRCh38: Chr11:61362321	TMEM138		not provided, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Jan 28, 2020)	criteria provided, conflicting interpretations
Select item 30505511.	NM_016464.4(TMEM138):c.-226C>G GRCh37: Chr11:61129806 GRCh38: Chr11:61362334	TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30505612.	NM_016464.5(TMEM138):c.-169C>T GRCh37: Chr11:61129863 GRCh38: Chr11:61362391	TMEM138		Joubert syndrome 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30505713.	NM_016464.5(TMEM138):c.-164T>C GRCh37: Chr11:61129868 GRCh38: Chr11:61362396	TMEM138		Joubert syndrome 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30505814.	NM_016464.5(TMEM138):c.-157C>G GRCh37: Chr11:61129875 GRCh38: Chr11:61362403	TMEM138		Joubert syndrome 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 119762715.	NM_016464.5(TMEM138):c.-139-267C>T GRCh37: Chr11:61131457 GRCh38: Chr11:61363985	TMEM138		not provided	Likely benign (Jun 30, 2018)	criteria provided, single submitter
Select item 125394116.	NM_016464.5(TMEM138):c.-139-106A>G GRCh37: Chr11:61131618 GRCh38: Chr11:61364146	TMEM138		not provided	Benign (Jun 30, 2018)	criteria provided, single submitter
Select item 30505917.	NM_016464.5(TMEM138):c.-71G>A GRCh37: Chr11:61131792 GRCh38: Chr11:61364320	TMEM138		Joubert syndrome 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87968218.	NM_016464.5(TMEM138):c.-55G>A GRCh37: Chr11:61131808 GRCh38: Chr11:61364336	TMEM138		Joubert syndrome 16	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30506019.	NM_016464.5(TMEM138):c.-24G>A GRCh37: Chr11:61131839 GRCh38: Chr11:61364367	TMEM138		not specified, Joubert syndrome 16	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 87968320.	NM_016464.5(TMEM138):c.-23G>A GRCh37: Chr11:61131840 GRCh38: Chr11:61364368	TMEM138		Joubert syndrome 16	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 87968421.	NM_016464.5(TMEM138):c.-17G>A GRCh37: Chr11:61131846 GRCh38: Chr11:61364374	TMEM138		Joubert syndrome 16	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 165318222.	NM_016464.5(TMEM138):c.12C>T (p.Thr4=) GRCh37: Chr11:61131874 GRCh38: Chr11:61364402	TMEM138		Joubert syndrome 16	Likely benign (Jun 19, 2021)	criteria provided, single submitter
Select item 152239023.	NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly) GRCh37: Chr11:61131875 GRCh38: Chr11:61364403	TMEM138	S5G	Joubert syndrome 16	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 138691424.	NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr) GRCh37: Chr11:61131897 GRCh38: Chr11:61364425	TMEM138	S12Y	Joubert syndrome 16	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 213104025.	NM_016464.5(TMEM138):c.45C>T (p.Phe15=) GRCh37: Chr11:61131907 GRCh38: Chr11:61364435	TMEM138		Joubert syndrome 16	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 57955426.	NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) GRCh37: Chr11:61131918 GRCh38: Chr11:61364446	TMEM138	S19C	Joubert syndrome 16	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 249851427.	NM_016464.5(TMEM138):c.66_69del (p.Phe23fs) GRCh37: Chr11:61131927-61131930 GRCh38: Chr11:61364455-61364458	TMEM138	F23fs	not provided	Likely pathogenic (Jan 1, 2023)	criteria provided, single submitter
Select item 43700828.	NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) GRCh37: Chr11:61131936 GRCh38: Chr11:61364464	TMEM138	N25S	not provided, Joubert syndrome 16, not specified	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 217288729.	NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala) GRCh37: Chr11:61131938 GRCh38: Chr11:61364466	TMEM138	S26A	Joubert syndrome 16	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 210674930.	NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser) GRCh37: Chr11:61131942 GRCh38: Chr11:61364470	TMEM138	F27S	Joubert syndrome 16	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 110273831.	NM_016464.5(TMEM138):c.81C>T (p.Phe27=) GRCh37: Chr11:61131943 GRCh38: Chr11:61364471	TMEM138		Joubert syndrome 16	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 150173632.	NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) GRCh37: Chr11:61131944 GRCh38: Chr11:61364472	TMEM138	S28A	Joubert syndrome 16	Uncertain significance (Nov 6, 2021)	criteria provided, single submitter
Select item 142481633.	NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer) GRCh37: Chr11:61131945 GRCh38: Chr11:61364473	TMEM138		Joubert syndrome 16	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 145817834.	NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter) GRCh37: Chr11:61131956 GRCh38: Chr11:61364484	TMEM138	Q32*	Joubert syndrome 16	Pathogenic (Dec 1, 2020)	criteria provided, single submitter
Select item 76700635.	NM_016464.5(TMEM138):c.102T>A (p.Thr34=) GRCh37: Chr11:61131964 GRCh38: Chr11:61364492	TMEM138		not provided, Joubert syndrome 16	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 157447636.	NM_016464.5(TMEM138):c.105T>C (p.Pro35=) GRCh37: Chr11:61131967 GRCh38: Chr11:61364495	TMEM138		Joubert syndrome 16	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 120483637.	NM_016464.5(TMEM138):c.128+3G>T GRCh37: Chr11:61131993 GRCh38: Chr11:61364521	TMEM138		not provided, Joubert syndrome 16	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3118738.	NM_016464.5(TMEM138):c.128+5G>A GRCh37: Chr11:61131995 GRCh38: Chr11:61364523	TMEM138		Joubert syndrome and related disorders, Joubert syndrome 16	Pathogenic/Likely pathogenic (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160307039.	NM_016464.5(TMEM138):c.128+7G>T GRCh37: Chr11:61131997 GRCh38: Chr11:61364525	TMEM138		Joubert syndrome 16	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 72742040.	NM_016464.5(TMEM138):c.128+8C>T GRCh37: Chr11:61131998 GRCh38: Chr11:61364526	TMEM138		Joubert syndrome 16	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 30506141.	NM_016464.5(TMEM138):c.128+15G>A GRCh37: Chr11:61132005 GRCh38: Chr11:61364533	TMEM138		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 214991242.	NM_016464.5(TMEM138):c.128+19T>G GRCh37: Chr11:61132009 GRCh38: Chr11:61364537	TMEM138		Joubert syndrome 16	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 121084943.	NM_016464.5(TMEM138):c.129-126G>A GRCh37: Chr11:61133391 GRCh38: Chr11:61365919	TMEM138		not provided	Likely benign (Aug 14, 2018)	criteria provided, single submitter
Select item 160803344.	NM_016464.5(TMEM138):c.129-20A>T GRCh37: Chr11:61133497 GRCh38: Chr11:61366025	TMEM138		Joubert syndrome 16	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 207659145.	NM_016464.5(TMEM138):c.129-11dup GRCh37: Chr11:61133498-61133499 GRCh38: Chr11:61366026-61366027	TMEM138		Joubert syndrome 16	Benign (Jun 1, 2022)	criteria provided, single submitter
Select item 157188846.	NM_016464.5(TMEM138):c.129-19C>T GRCh37: Chr11:61133498 GRCh38: Chr11:61366026	TMEM138		Joubert syndrome 16	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 137599747.	NM_016464.5(TMEM138):c.129-19C>G GRCh37: Chr11:61133498 GRCh38: Chr11:61366026	TMEM138		Joubert syndrome 16	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 159627148.	NM_016464.5(TMEM138):c.129-18T>A GRCh37: Chr11:61133499 GRCh38: Chr11:61366027	TMEM138		Joubert syndrome 16	Likely benign (Jun 7, 2021)	criteria provided, single submitter
Select item 153998949.	NM_016464.5(TMEM138):c.129-10dup GRCh37: Chr11:61133506-61133507 GRCh38: Chr11:61366034-61366035	TMEM138		Joubert syndrome 16	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 219775750.	NM_016464.5(TMEM138):c.129-10A>G GRCh37: Chr11:61133507 GRCh38: Chr11:61366035	TMEM138		Joubert syndrome 16	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 158076551.	NM_016464.5(TMEM138):c.129-8G>T GRCh37: Chr11:61133509 GRCh38: Chr11:61366037	TMEM138		Joubert syndrome 16	Likely benign (Jun 7, 2021)	criteria provided, single submitter
Select item 157465952.	NM_016464.5(TMEM138):c.129-4A>G GRCh37: Chr11:61133513 GRCh38: Chr11:61366041	TMEM138		Joubert syndrome 16	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 196184453.	NM_016464.5(TMEM138):c.129-3C>T GRCh37: Chr11:61133514 GRCh38: Chr11:61366042	TMEM138		Joubert syndrome 16	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 26609254.	NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg) GRCh37: Chr11:61133522 GRCh38: Chr11:61366050	TMEM138	Q45R	Meckel-Gruber syndrome	Likely pathogenic	no assertion criteria provided
Select item 42935255.	NM_016464.5(TMEM138):c.136G>C (p.Asp46His) GRCh37: Chr11:61133524 GRCh38: Chr11:61366052	TMEM138	D46H	Joubert syndrome 16, not provided	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219967256.	NM_016464.5(TMEM138):c.166A>G (p.Ile56Val) GRCh37: Chr11:61133554 GRCh38: Chr11:61366082	TMEM138	I56V	Joubert syndrome 16	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 213289557.	NM_016464.5(TMEM138):c.176T>G (p.Met59Arg) GRCh37: Chr11:61133564 GRCh38: Chr11:61366092	TMEM138	M59R, M1R	Joubert syndrome 16	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 140315058.	NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala) GRCh37: Chr11:61133575 GRCh38: Chr11:61366103	TMEM138	T5A, T63A	Joubert syndrome 16	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 153332959.	NM_016464.5(TMEM138):c.192C>T (p.Phe64=) GRCh37: Chr11:61133580 GRCh38: Chr11:61366108	TMEM138		Joubert syndrome 16	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 47288560.	NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) GRCh37: Chr11:61133581 GRCh38: Chr11:61366109	TMEM138	V65I, V7I	Joubert syndrome 16	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 167350361.	NM_016464.5(TMEM138):c.195C>T (p.Val65=) GRCh37: Chr11:61133583 GRCh38: Chr11:61366111	TMEM138		Joubert syndrome 16	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 136040462.	NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu) GRCh37: Chr11:61133584 GRCh38: Chr11:61366112	TMEM138	F66L, F8L	Joubert syndrome 16	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 213240363.	NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu) GRCh37: Chr11:61133587 GRCh38: Chr11:61366115	TMEM138	Q67E, Q9E	Joubert syndrome 16	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 139080764.	NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp) GRCh37: Chr11:61133591 GRCh38: Chr11:61366119	TMEM138	A10D, A68D	Joubert syndrome 16	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 156213365.	NM_016464.5(TMEM138):c.204T>C (p.Ala68=) GRCh37: Chr11:61133592 GRCh38: Chr11:61366120	TMEM138		Joubert syndrome 16	Likely benign (Jul 30, 2021)	criteria provided, single submitter
Select item 195126466.	NM_016464.5(TMEM138):c.207C>T (p.Gly69=) GRCh37: Chr11:61133595 GRCh38: Chr11:61366123	TMEM138		Joubert syndrome 16	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 136013567.	NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln) GRCh37: Chr11:61133597 GRCh38: Chr11:61366125	TMEM138	L12Q, L70Q	Joubert syndrome 16	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 26074768.	NM_016464.5(TMEM138):c.216C>T (p.Asn72=) GRCh37: Chr11:61133604 GRCh38: Chr11:61366132	TMEM138		Joubert syndrome 16, not specified	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 149229669.	NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe) GRCh37: Chr11:61133605 GRCh38: Chr11:61366133	TMEM138	L15F, L73F	Joubert syndrome 16	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 150131370.	NM_016464.5(TMEM138):c.227A>G (p.His76Arg) GRCh37: Chr11:61133615 GRCh38: Chr11:61366143	TMEM138	H18R, H76R	Joubert syndrome 16	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 213442871.	NM_016464.5(TMEM138):c.230A>T (p.Lys77Met) GRCh37: Chr11:61133618 GRCh38: Chr11:61366146	TMEM138	K19M, K77M	Joubert syndrome 16	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 164441472.	NM_016464.5(TMEM138):c.231G>A (p.Lys77=) GRCh37: Chr11:61133619 GRCh38: Chr11:61366147	TMEM138		Joubert syndrome 16	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 28796473.	NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) GRCh37: Chr11:61133635 GRCh38: Chr11:61366163	TMEM138	I83V, I25V	Inborn genetic diseases, not provided, Joubert syndrome 16	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135583274.	NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr) GRCh37: Chr11:61133636 GRCh38: Chr11:61366164	TMEM138	I25T, I83T	Joubert syndrome 16	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 13058675.	NM_016464.5(TMEM138):c.261G>A (p.Val87=) GRCh37: Chr11:61133649 GRCh38: Chr11:61366177	TMEM138		not specified, Joubert syndrome 16	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88004676.	NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) GRCh37: Chr11:61133662 GRCh38: Chr11:61366190	TMEM138	S34R, S92R	Joubert syndrome 16	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160525177.	NM_016464.5(TMEM138):c.276C>T (p.Ser92=) GRCh37: Chr11:61133664 GRCh38: Chr11:61366192	TMEM138		Joubert syndrome 16	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 135390378.	NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys) GRCh37: Chr11:61133669 GRCh38: Chr11:61366197	TMEM138	S36C, S94C	Joubert syndrome 16	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 3118879.	NM_016464.5(TMEM138):c.287A>G (p.His96Arg) GRCh37: Chr11:61133675 GRCh38: Chr11:61366203	TMEM138	H96R, H38R	Joubert syndrome 16, not provided	Pathogenic/Likely pathogenic (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 201070780.	NM_016464.5(TMEM138):c.288T>C (p.His96=) GRCh37: Chr11:61133676 GRCh38: Chr11:61366204	TMEM138		Joubert syndrome 16	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 113924881.	NM_016464.5(TMEM138):c.300+13G>A GRCh37: Chr11:61133701 GRCh38: Chr11:61366229	TMEM138		Joubert syndrome 16	Likely benign (Oct 26, 2020)	criteria provided, single submitter
Select item 153981982.	NM_016464.5(TMEM138):c.300+17G>A GRCh37: Chr11:61133705 GRCh38: Chr11:61366233	TMEM138		Joubert syndrome 16	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 120945083.	NM_016464.5(TMEM138):c.300+235CTTTT[4] GRCh37: Chr11:61133923-61133927 GRCh38: Chr11:61366451-61366455	TMEM138		not provided	Likely benign (Jun 5, 2020)	criteria provided, single submitter
Select item 121555084.	NM_016464.5(TMEM138):c.300+238T>C GRCh37: Chr11:61133926 GRCh38: Chr11:61366454	TMEM138		not provided	Likely benign (Oct 29, 2019)	criteria provided, single submitter
Select item 120533485.	NM_016464.5(TMEM138):c.300+270dup GRCh37: Chr11:61133943-61133944 GRCh38: Chr11:61366471-61366472	TMEM138		not provided	Likely benign (Aug 9, 2019)	criteria provided, single submitter
Select item 120810186.	NM_016464.5(TMEM138):c.300+284G>A GRCh37: Chr11:61133972 GRCh38: Chr11:61366500	TMEM138		not provided	Likely benign (Sep 11, 2018)	criteria provided, single submitter
Select item 67192887.	NM_016464.5(TMEM138):c.300+292G>A GRCh37: Chr11:61133980 GRCh38: Chr11:61366508	TMEM138		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 66755188.	NM_016464.5(TMEM138):c.301-266A>G GRCh37: Chr11:61135129 GRCh38: Chr11:61367657	TMEM138		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 191278389.	NM_016464.5(TMEM138):c.301-16C>T GRCh37: Chr11:61135379 GRCh38: Chr11:61367907	TMEM138		Joubert syndrome 16	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 193010990.	NM_016464.5(TMEM138):c.301-13A>G GRCh37: Chr11:61135382 GRCh38: Chr11:61367910	TMEM138		Joubert syndrome 16	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 158430291.	NM_016464.5(TMEM138):c.301-9C>A GRCh37: Chr11:61135386 GRCh38: Chr11:61367914	TMEM138		Joubert syndrome 16	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 164263192.	NM_016464.5(TMEM138):c.303C>T (p.Asn101=) GRCh37: Chr11:61135397 GRCh38: Chr11:61367925	TMEM138		Joubert syndrome 16	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 201822793.	NM_016464.5(TMEM138):c.306dup (p.Arg103fs) GRCh37: Chr11:61135399-61135400 GRCh38: Chr11:61367927-61367928	TMEM138	R103fs, R45fs	Joubert syndrome 16	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 150557894.	NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) GRCh37: Chr11:61135399-61135400 GRCh38: Chr11:61367927-61367928	TMEM138	R103fs, R45fs	Joubert syndrome 16	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 205639295.	NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly) GRCh37: Chr11:61135401 GRCh38: Chr11:61367929	TMEM138	R45G, R103G	Joubert syndrome 16	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 204639196.	NM_016464.5(TMEM138):c.307del (p.Arg103fs) GRCh37: Chr11:61135401 GRCh38: Chr11:61367929	TMEM138	R45fs, R103fs	not provided, Joubert syndrome 16	Pathogenic/Likely pathogenic (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140157197.	NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys) GRCh37: Chr11:61135401 GRCh38: Chr11:61367929	TMEM138	R45C, R103C	Joubert syndrome 16	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 30506298.	NM_016464.5(TMEM138):c.308G>A (p.Arg103His) GRCh37: Chr11:61135402 GRCh38: Chr11:61367930	TMEM138	R103H, R45H	Joubert syndrome 16	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198244399.	NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter) GRCh37: Chr11:61135405 GRCh38: Chr11:61367933	TMEM138	W46, W104	Joubert syndrome 16	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 1513723100.	NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu) GRCh37: Chr11:61135405 GRCh38: Chr11:61367933	TMEM138	W104L, W46L	Joubert syndrome 16	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter

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