ClinVar for MedGen (Select 196721) - ClinVar

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Items: 62

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9863831.	NM_001822.7(CHN1):c.80C>G (p.Ala27Gly) GRCh37: Chr2:175809650 GRCh38: Chr2:174944922	CHN1	A27G	Duane retraction syndrome 2	Uncertain significance (Nov 16, 2020)	criteria provided, single submitter
Select item 9310062.	NM_001822.7(CHN1):c.962G>C (p.Arg321Thr) GRCh37: Chr2:175676241 GRCh38: Chr2:174811513	CHN1	R295T, R338T, R196T, R321T	Duane retraction syndrome 2	Uncertain significance (Dec 13, 2018)	criteria provided, single submitter
Select item 8947673.	NM_001822.7(CHN1):c.297C>T (p.Tyr99=) GRCh37: Chr2:175742820 GRCh38: Chr2:174878092	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8947664.	NM_001822.7(CHN1):c.550-4G>A GRCh37: Chr2:175711689 GRCh38: Chr2:174846961	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8938495.	NM_001822.7(CHN1):c.1002A>G (p.Glu334=) GRCh37: Chr2:175673733 GRCh38: Chr2:174809005	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8938486.	NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu) GRCh37: Chr2:175666528 GRCh38: Chr2:174801800	CHN1	P372L, P389L, P247L, P346L	Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8938477.	NM_001822.7(CHN1):c.*52T>C GRCh37: Chr2:175664792 GRCh38: Chr2:174800064	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8935968.	NM_001822.7(CHN1):c.-353C>T GRCh37: Chr2:175869993 GRCh38: Chr2:175005265	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8935959.	NM_001822.7(CHN1):c.-206G>A GRCh37: Chr2:175869846 GRCh38: Chr2:175005118	CHN1, LOC129935151		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89355410.	NM_001822.7(CHN1):c.*198A>G GRCh37: Chr2:175664646 GRCh38: Chr2:174799918	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89355311.	NM_001822.7(CHN1):c.*252C>T GRCh37: Chr2:175664592 GRCh38: Chr2:174799864	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89355212.	NM_001822.7(CHN1):c.*256C>T GRCh37: Chr2:175664588 GRCh38: Chr2:174799860	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89355113.	NM_001822.7(CHN1):c.*309G>A GRCh37: Chr2:175664535 GRCh38: Chr2:174799807	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89355014.	NM_001822.7(CHN1):c.*337G>C GRCh37: Chr2:175664507 GRCh38: Chr2:174799779	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89354915.	NM_001822.7(CHN1):c.*422C>T GRCh37: Chr2:175664422 GRCh38: Chr2:174799694	CHN1		Duane retraction syndrome 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89354816.	NM_001822.7(CHN1):c.*426C>T GRCh37: Chr2:175664418 GRCh38: Chr2:174799690	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89354717.	NM_001822.7(CHN1):c.*564G>A GRCh37: Chr2:175664280 GRCh38: Chr2:174799552	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89278818.	NM_001822.7(CHN1):c.-23G>T GRCh37: Chr2:175869663 GRCh38: Chr2:175004935	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89278719.	NM_001822.7(CHN1):c.7C>T (p.Leu3=) GRCh37: Chr2:175869634 GRCh38: Chr2:175004906	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89278620.	NM_001822.7(CHN1):c.147-4T>G GRCh37: Chr2:175779903 GRCh38: Chr2:174915175	LOC126806410, CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89278521.	NM_001822.7(CHN1):c.177C>T (p.Ala59=) GRCh37: Chr2:175779869 GRCh38: Chr2:174915141	CHN1, LOC126806410		Duane retraction syndrome 2	Uncertain significance (Aug 30, 2017)	criteria provided, single submitter
Select item 89278422.	NM_001822.7(CHN1):c.193G>A (p.Val65Met) GRCh37: Chr2:175779853 GRCh38: Chr2:174915125	CHN1, LOC126806410	V65M, V82M	Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89278323.	NM_001822.7(CHN1):c.225C>G (p.Ser75Arg) GRCh37: Chr2:175779821 GRCh38: Chr2:174915093	CHN1, LOC126806410	S75R, S92R	Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89275224.	NM_001822.7(CHN1):c.*635A>C GRCh37: Chr2:175664209 GRCh38: Chr2:174799481	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89275125.	NM_001822.7(CHN1):c.*756C>T GRCh37: Chr2:175664088 GRCh38: Chr2:174799360	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 75342826.	NM_001822.7(CHN1):c.67C>T (p.Leu23=) GRCh37: Chr2:175809663 GRCh38: Chr2:174944935	CHN1		Duane retraction syndrome 2, not provided	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 72522727.	NM_001822.7(CHN1):c.237A>G (p.Pro79=) GRCh37: Chr2:175779809 GRCh38: Chr2:174915081	CHN1, LOC126806410		not provided, Duane retraction syndrome 2	Conflicting interpretations of pathogenicity (Oct 10, 2018)	criteria provided, conflicting interpretations
Select item 72210028.	NM_001822.7(CHN1):c.435C>T (p.His145=) GRCh37: Chr2:175742682 GRCh38: Chr2:174877954	CHN1		not provided, Duane retraction syndrome 2	Conflicting interpretations of pathogenicity (Jan 24, 2018)	criteria provided, conflicting interpretations
Select item 70907229.	NM_001822.7(CHN1):c.588C>T (p.Asn196=) GRCh37: Chr2:175711647 GRCh38: Chr2:174846919	CHN1		not provided, Duane retraction syndrome 2	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 55983530.	NM_001822.7(CHN1):c.661T>C (p.Tyr221His) GRCh37: Chr2:175689213 GRCh38: Chr2:174824485	CHN1	Y221H, Y195H, Y96H, Y238H	not provided, Duane retraction syndrome 2	Pathogenic/Likely pathogenic (Apr 10, 2017)	criteria provided, multiple submitters, no conflicts
Select item 33247631.	NM_001822.7(CHN1):c.-298C>G GRCh37: Chr2:175869938 GRCh38: Chr2:175005210	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33247532.	NM_001822.7(CHN1):c.-271T>C GRCh37: Chr2:175869911 GRCh38: Chr2:175005183	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33247433.	NM_001822.7(CHN1):c.-160C>G GRCh37: Chr2:175869800 GRCh38: Chr2:175005072	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33247334.	NM_001822.7(CHN1):c.-104C>T GRCh37: Chr2:175869744 GRCh38: Chr2:175005016	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33247235.	NM_001822.7(CHN1):c.-74C>T GRCh37: Chr2:175869714 GRCh38: Chr2:175004986	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33247136.	NM_001822.7(CHN1):c.-68G>A GRCh37: Chr2:175869708 GRCh38: Chr2:175004980	CHN1		Duane retraction syndrome 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33247037.	NM_001822.7(CHN1):c.-36C>T GRCh37: Chr2:175869676 GRCh38: Chr2:175004948	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33246938.	NM_001822.7(CHN1):c.432G>C (p.Glu144Asp) GRCh37: Chr2:175742685 GRCh38: Chr2:174877957	CHN1	E144D, E161D	Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33246839.	NM_001822.7(CHN1):c.500C>T (p.Thr167Ile) GRCh37: Chr2:175742617 GRCh38: Chr2:174877889	CHN1	T167I, T184I	Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33246740.	NM_001822.7(CHN1):c.628-15C>T GRCh37: Chr2:175689261 GRCh38: Chr2:174824533	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33246441.	NM_001822.7(CHN1):c.886+15G>A GRCh37: Chr2:175677022 GRCh38: Chr2:174812294	CHN1		Duane retraction syndrome 2	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33246342.	NM_001822.7(CHN1):c.964+6T>G GRCh37: Chr2:175676233 GRCh38: Chr2:174811505	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33246243.	NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly) GRCh37: Chr2:175664905 GRCh38: Chr2:174800177	CHN1	D440G, D315G, D414G, D457G	Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33246144.	NM_001822.7(CHN1):c.*28T>C GRCh37: Chr2:175664816 GRCh38: Chr2:174800088	CHN1		Duane retraction syndrome 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33246045.	NM_001822.7(CHN1):c.*154G>A GRCh37: Chr2:175664690 GRCh38: Chr2:174799962	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33245846.	NM_001822.7(CHN1):c.*608A>G GRCh37: Chr2:175664236 GRCh38: Chr2:174799508	CHN1		Duane retraction syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33245747.	NM_001822.7(CHN1):c.*643A>T GRCh37: Chr2:175664201 GRCh38: Chr2:174799473	CHN1		Duane retraction syndrome 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33245648.	NM_001822.7(CHN1):c.*668T>C GRCh37: Chr2:175664176 GRCh38: Chr2:174799448	CHN1		Duane retraction syndrome 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33245549.	NM_001822.7(CHN1):c.*677G>A GRCh37: Chr2:175664167 GRCh38: Chr2:174799439	CHN1		Duane retraction syndrome 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 22462950.	NM_005461.4(MAFB):c.(?_391)_*(390_?)del GRCh37: Chr20:39316129-39317100 GRCh38: Chr20:40687489-40688460	MAFB		Duane syndrome type 1, Duane retraction syndrome 2	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 22462851.	NM_005461.5(MAFB):c.803del (p.Asn268fs) GRCh37: Chr20:39316688 GRCh38: Chr20:40688048	MAFB	N268fs	Duane syndrome type 1, Duane retraction syndrome 2	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 22462752.	NM_005461.5(MAFB):c.644del (p.Gln215fs) GRCh37: Chr20:39316847 GRCh38: Chr20:40688207	MAFB	Q215fs	Duane syndrome type 1, Duane retraction syndrome 2	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 22462653.	NM_005461.5(MAFB):c.440del (p.Gly147fs) GRCh37: Chr20:39317051 GRCh38: Chr20:40688411	MAFB	G147fs	Duane syndrome type 1, Duane retraction syndrome 2	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 2962454.	NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) GRCh37: Chr2:175677169 GRCh38: Chr2:174812441	CHN1	P252S, P226S, P127S, P269S	Duane retraction syndrome 2	Pathogenic (May 1, 2011)	no assertion criteria provided
Select item 2962355.	NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) GRCh37: Chr2:175742695 GRCh38: Chr2:174877967	CHN1	P141L, P158L	Duane retraction syndrome 2	Pathogenic (May 1, 2011)	no assertion criteria provided
Select item 1755656.	NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) GRCh37: Chr2:175676266 GRCh38: Chr2:174811538	CHN1	E313K, E188K, E287K, E330K	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided
Select item 1755557.	NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) GRCh37: Chr2:175677168 GRCh38: Chr2:174812440	CHN1	P252Q, P127Q, P226Q, P269Q	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided
Select item 1755458.	NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) GRCh37: Chr2:175689192 GRCh38: Chr2:174824464	CHN1	G228S, G202S, G103S, G245S	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided
Select item 1755359.	NM_001822.7(CHN1):c.668C>T (p.Ala223Val) GRCh37: Chr2:175689206 GRCh38: Chr2:174824478	CHN1	A223V, A197V, A98V, A240V	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided
Select item 1755260.	NM_001822.7(CHN1):c.427T>C (p.Tyr143His) GRCh37: Chr2:175742690 GRCh38: Chr2:174877962	CHN1	Y143H, Y160H	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided
Select item 1755161.	NM_001822.7(CHN1):c.378T>G (p.Ile126Met) GRCh37: Chr2:175742739 GRCh38: Chr2:174878011	CHN1	I126M, I143M	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided
Select item 1755062.	NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) GRCh37: Chr2:175809670 GRCh38: Chr2:174944942	CHN1	L20F	Duane retraction syndrome 2	Pathogenic (Aug 8, 2008)	no assertion criteria provided

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Items: 62