ClinVar for MedGen (Select 1675627) - ClinVar

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Items: 27

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25730901.	NM_014738.6(TMEM94):c.4063C>T (p.Pro1355Ser) GRCh37: Chr17:73495407 GRCh38: Chr17:75499326	TMEM94	P1339S, P1355S, P1359S, P1364S, P1365S	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Jun 21, 2023)	criteria provided, single submitter
Select item 24417312.	NM_014738.6(TMEM94):c.352C>T (p.Arg118Trp) GRCh37: Chr17:73482450 GRCh38: Chr17:75486369	TMEM94	R118W, R128W	Inborn genetic diseases, Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24371203.	NM_014738.6(TMEM94):c.3572T>C (p.Leu1191Pro) GRCh37: Chr17:73494338 GRCh38: Chr17:75498257	TMEM94	L1175P, L1191P, L1195P, L1200P, L1201P	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 19923784.	NM_014738.6(TMEM94):c.2548C>T (p.Arg850Cys) GRCh37: Chr17:73490848 GRCh38: Chr17:75494767	TMEM94	R834C, R860C, R859C, R850C, R854C	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 13423815.	NM_014738.6(TMEM94):c.2386C>T (p.Arg796Cys) GRCh37: Chr17:73489976 GRCh38: Chr17:75493895	TMEM94	R780C, R796C, R800C, R806C	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Mar 22, 2021)	criteria provided, single submitter
Select item 13327036.	NM_014738.6(TMEM94):c.1970_1974dup (p.Pro659fs) GRCh37: Chr17:73489065-73489066 GRCh38: Chr17:75492984-75492985	TMEM94	P643fs, P659fs, P663fs, P669fs	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance	criteria provided, single submitter
Select item 13213067.	NM_014738.6(TMEM94):c.2902G>A (p.Val968Met) GRCh37: Chr17:73491682 GRCh38: Chr17:75495601	TMEM94	V952M, V968M, V972M, V977M, V978M	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 13213018.	NM_014738.6(TMEM94):c.3347C>T (p.Pro1116Leu) GRCh37: Chr17:73493219 GRCh38: Chr17:75497138	TMEM94	P1100L, P1116L, P1120L, P1125L, P1126L	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 13000649.	NM_014738.6(TMEM94):c.2087-5C>G GRCh37: Chr17:73489567 GRCh38: Chr17:75493486	TMEM94		Intellectual developmental disorder with cardiac defects and dysmorphic facies	Benign (Aug 19, 2021)	criteria provided, single submitter
Select item 130006310.	NM_014738.6(TMEM94):c.1836C>T (p.Ile612=) GRCh37: Chr17:73488794 GRCh38: Chr17:75492713	TMEM94		Intellectual developmental disorder with cardiac defects and dysmorphic facies	Benign (Aug 19, 2021)	criteria provided, single submitter
Select item 117744711.	NM_014738.6(TMEM94):c.2729-2A>G GRCh37: Chr17:73491363 GRCh38: Chr17:75495282	TMEM94		Intellectual developmental disorder with cardiac defects and dysmorphic facies	Pathogenic (Jul 9, 2021)	no assertion criteria provided
Select item 117744612.	NM_014738.6(TMEM94):c.606dup (p.Ile203fs) GRCh37: Chr17:73484204-73484205 GRCh38: Chr17:75488123-75488124	TMEM94	I203fs, I213fs	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Pathogenic (Jul 8, 2021)	no assertion criteria provided
Select item 103130313.	NM_014738.6(TMEM94):c.2936C>A (p.Thr979Asn) GRCh37: Chr17:73491716 GRCh38: Chr17:75495635	TMEM94	T979N, T983N, T988N, T989N, T963N	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 103130214.	NM_014738.6(TMEM94):c.1861G>A (p.Val621Met) GRCh37: Chr17:73488819 GRCh38: Chr17:75492738	TMEM94	V625M, V621M, V605M, V631M	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Nov 8, 2019)	criteria provided, single submitter
Select item 103130115.	NM_014738.6(TMEM94):c.1544C>T (p.Ser515Phe) GRCh37: Chr17:73487929 GRCh38: Chr17:75491848	TMEM94	S515F, S525F, S519F	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Nov 6, 2019)	criteria provided, single submitter
Select item 103130016.	NM_014738.6(TMEM94):c.1066_1067delinsAA (p.Ser356Asn) GRCh37: Chr17:73486426-73486427 GRCh38: Chr17:75490345-75490346	TMEM94	S356N, S366N	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Jun 17, 2020)	criteria provided, single submitter
Select item 102788817.	NM_014738.6(TMEM94):c.771C>G (p.Cys257Trp) GRCh37: Chr17:73485353 GRCh38: Chr17:75489272	TMEM94	C267W, C257W	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 102788718.	NM_014738.6(TMEM94):c.3740T>C (p.Ile1247Thr) GRCh37: Chr17:73494716 GRCh38: Chr17:75498635	TMEM94	I1231T, I1256T, I1257T, I1247T, I1251T	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Jun 17, 2020)	criteria provided, single submitter
Select item 102788619.	NM_014738.6(TMEM94):c.3601C>T (p.Arg1201Cys) GRCh37: Chr17:73494367 GRCh38: Chr17:75498286	TMEM94	R1205C, R1185C, R1210C, R1201C, R1211C	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Dec 4, 2019)	criteria provided, single submitter
Select item 102788520.	NM_014738.6(TMEM94):c.3458C>T (p.Thr1153Met) GRCh37: Chr17:73493912 GRCh38: Chr17:75497831	TMEM94	T1137M, T1153M, T1157M, T1162M, T1163M	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Oct 9, 2020)	criteria provided, single submitter
Select item 101226421.	NM_014738.6(TMEM94):c.4037T>C (p.Phe1346Ser) GRCh37: Chr17:73495381 GRCh38: Chr17:75499300	TMEM94	F1330S, F1346S, F1350S, F1355S, F1356S	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Uncertain significance (Mar 7, 2021)	no assertion criteria provided
Select item 91531122.	NM_014738.6(TMEM94):c.1600C>T (p.Gln534Ter) GRCh37: Chr17:73488558 GRCh38: Chr17:75492477	TMEM94	Q534, Q538, Q544, Q518	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 61767123.	NM_014738.6(TMEM94):c.3998+5G>A GRCh37: Chr17:73495168 GRCh38: Chr17:75499087	TMEM94		Intellectual developmental disorder with cardiac defects and dysmorphic facies	Pathogenic (Feb 6, 2019)	no assertion criteria provided
Select item 61766824.	NM_014738.6(TMEM94):c.810del (p.Asp270fs) GRCh37: Chr17:73485392 GRCh38: Chr17:75489311	TMEM94	D270fs, D280fs	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Pathogenic (Feb 6, 2019)	no assertion criteria provided
Select item 61766725.	NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter) GRCh37: Chr17:73491370 GRCh38: Chr17:75495289	TMEM94	R922, R912, R921, R896, R916*	Intellectual developmental disorder with cardiac defects and dysmorphic facies	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 59874426.	NM_014738.6(TMEM94):c.765-1G>C GRCh37: Chr17:73485346 GRCh38: Chr17:75489265	TMEM94		TMEM94-related condition	Pathogenic (Mar 16, 2018)	criteria provided, single submitter
Select item 59874327.	NM_014738.6(TMEM94):c.2605dup (p.Met869fs) GRCh37: Chr17:73490986-73490987 GRCh38: Chr17:75494905-75494906	TMEM94	M853fs, M869fs, M873fs, M879fs, M878fs	TMEM94-related condition	Pathogenic (Mar 16, 2018)	criteria provided, single submitter

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Items: 27