CHN1[gene] and "single gene"[properties] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892751	NM_001822.7(CHN1):c.*756C>T	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332453	NM_001822.7(CHN1):c.734_737del	CHN1	Deletion (3 prime UTR variant +1 more)	Duane retraction syndrome	GLikely benign
Select item 332454	NM_001822.7(CHN1):c.687_691del	CHN1	Deletion (3 prime UTR variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 332455	NM_001822.7(CHN1):c.*677G>A	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GBenign
Select item 332456	NM_001822.7(CHN1):c.*668T>C	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GLikely benign
Select item 332457	NM_001822.7(CHN1):c.*643A>T	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GLikely benign
Select item 892752	NM_001822.7(CHN1):c.*635A>C	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332458	NM_001822.7(CHN1):c.*608A>G	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893547	NM_001822.7(CHN1):c.*564G>A	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893548	NM_001822.7(CHN1):c.*426C>T	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893549	NM_001822.7(CHN1):c.*422C>T	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893550	NM_001822.7(CHN1):c.*337G>C	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893551	NM_001822.7(CHN1):c.*309G>A	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893552	NM_001822.7(CHN1):c.*256C>T	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893553	NM_001822.7(CHN1):c.*252C>T	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332459	NM_001822.7(CHN1):c.*214dup	CHN1	Duplication (3 prime UTR variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 893554	NM_001822.7(CHN1):c.*198A>G	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332460	NM_001822.7(CHN1):c.*154G>A	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893847	NM_001822.7(CHN1):c.*52T>C	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332461	NM_001822.7(CHN1):c.*28T>C	CHN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 788086	NM_001822.7(CHN1):c.1368C>T (p.Asp456=)	CHN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 421756	NM_001822.7(CHN1):c.1342G>A (p.Val448Met)	CHN1 (V448M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 585049	NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)	CHN1 (I441T +3 more)	Single nucleotide variant (missense variant +1 more)	Duane syndrome type 1	Gnot provided
Select item 332462	NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly)	CHN1 (D440G +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 423161	NM_001822.7(CHN1):c.1315A>G (p.Asn439Asp)	CHN1 (N439D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 441135	NM_001822.7(CHN1):c.1301C>T (p.Ala434Val)	CHN1 (A434V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 722706	NM_001822.7(CHN1):c.1299C>T (p.Asp433=)	CHN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3370874	NM_001822.7(CHN1):c.1217T>G (p.Leu406Arg)	CHN1 (L281R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632254	NM_001822.7(CHN1):c.1216C>T (p.Leu406Phe)	CHN1 (L281F +3 more)	Single nucleotide variant (missense variant +1 more)	CHN1-related disorder	GUncertain significance
Select item 746053	NM_001822.7(CHN1):c.1203A>G (p.Leu401=)	CHN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2301721	NM_001822.7(CHN1):c.1121A>C (p.Glu374Ala)	CHN1 (E348A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 893848	NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu)	CHN1 (P372L +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 974781	NM_001822.7(CHN1):c.1106T>G (p.Ile369Ser)	CHN1 (I244S +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant Robinow syndrome 2	GPathogenic
Select item 3144475	NM_001822.7(CHN1):c.1090A>G (p.Ile364Val)	CHN1 (I338V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267077	NM_001822.7(CHN1):c.1010A>C (p.Asn337Thr)	CHN1 (N212T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 893849	NM_001822.7(CHN1):c.1002A>G (p.Glu334=)	CHN1	Single nucleotide variant (synonymous variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332463	NM_001822.7(CHN1):c.964+6T>G	CHN1	Single nucleotide variant (intron variant)	Duane retraction syndrome 2	GUncertain significance
Select item 931006	NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)	CHN1 (R295T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 17556	NM_001822.7(CHN1):c.937G>A (p.Glu313Lys)	CHN1 (E313K +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 727668	NM_001822.7(CHN1):c.915A>G (p.Val305=)	CHN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 753992	NM_001822.7(CHN1):c.906A>G (p.Leu302=)	CHN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 332464	NM_001822.7(CHN1):c.886+15G>A	CHN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2589764	NM_001822.7(CHN1):c.788A>G (p.Lys263Arg)	CHN1 (K263R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258791	NM_001822.7(CHN1):c.784G>T (p.Val262Phe)	CHN1 (V236F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 17555	NM_001822.7(CHN1):c.755C>A (p.Pro252Gln)	CHN1 (P252Q +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 29624	NM_001822.7(CHN1):c.754C>T (p.Pro252Ser)	CHN1 (P252S +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 2574198	NM_001822.7(CHN1):c.712G>T (p.Asp238Tyr)	CHN1 (D113Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 17554	NM_001822.7(CHN1):c.682G>A (p.Gly228Ser)	CHN1 (G228S +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 2477403	NM_001822.7(CHN1):c.679T>C (p.Trp227Arg)	CHN1 (W201R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 17553	NM_001822.7(CHN1):c.668C>T (p.Ala223Val)	CHN1 (A223V +3 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome 2	GPathogenic
Select item 598971	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	CHN1 (A223T +3 more)	Single nucleotide variant (missense variant +1 more)	Cleft palate +19 more	GLikely pathogenic
Select item 559835	NM_001822.7(CHN1):c.661T>C (p.Tyr221His)	CHN1 (Y221H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1708248	NM_001822.7(CHN1):c.643G>A (p.Gly215Arg)	CHN1 (G189R +3 more)	Single nucleotide variant (missense variant +1 more)	Oromandibular-limb hypogenesis spectrum	GLikely pathogenic
Select item 332465	NM_001822.7(CHN1):c.628-14dup	CHN1	Duplication (intron variant)	not provided +1 more	GUncertain significance
Select item 332466	NM_001822.7(CHN1):c.628-15_628-14del	CHN1	Microsatellite (intron variant)	Duane retraction syndrome	GLikely benign
Select item 332467	NM_001822.7(CHN1):c.628-15C>T	CHN1	Single nucleotide variant (intron variant)	Duane retraction syndrome 2	GUncertain significance
Select item 2552791	NM_001822.7(CHN1):c.620A>G (p.Asn207Ser)	CHN1 (N224S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2376497	NM_001822.7(CHN1):c.589G>A (p.Glu197Lys)	CHN1 (E72K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 709072	NM_001822.7(CHN1):c.588C>T (p.Asn196=)	CHN1	Single nucleotide variant (synonymous variant +2 more)	Duane retraction syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2520903	NM_001822.7(CHN1):c.554C>T (p.Thr185Ile)	CHN1 (T185I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 894766	NM_001822.7(CHN1):c.550-4G>A	CHN1	Single nucleotide variant (synonymous variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 755716	NM_001822.7(CHN1):c.550-5C>T	CHN1 (S57L)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2512622	NM_001822.7(CHN1):c.535G>A (p.Val179Met)	CHN1 (V179M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 332468	NM_001822.7(CHN1):c.500C>T (p.Thr167Ile)	CHN1 (T167I +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GUncertain significance
Select item 3144477	NM_001822.7(CHN1):c.482T>A (p.Met161Lys)	CHN1 (M178K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308344	NM_001822.7(CHN1):c.470A>G (p.Tyr157Cys)	CHN1 (Y157C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722100	NM_001822.7(CHN1):c.435C>T (p.His145=)	CHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332469	NM_001822.7(CHN1):c.432G>C (p.Glu144Asp)	CHN1 (E144D +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GUncertain significance
Select item 17552	NM_001822.7(CHN1):c.427T>C (p.Tyr143His)	CHN1 (Y143H +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GPathogenic
Select item 29623	NM_001822.7(CHN1):c.422C>T (p.Pro141Leu)	CHN1 (P141L +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GPathogenic
Select item 3144476	NM_001822.7(CHN1):c.407A>G (p.Lys136Arg)	CHN1 (K136R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792901	NM_001822.7(CHN1):c.405C>T (p.Ala135=)	CHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17551	NM_001822.7(CHN1):c.378T>G (p.Ile126Met)	CHN1 (I126M +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GPathogenic
Select item 2295509	NM_001822.7(CHN1):c.377T>C (p.Ile126Thr)	CHN1 (I126T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688777	NM_001822.7(CHN1):c.361T>G (p.Leu121Val)	CHN1 (L121V +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome 2	GUncertain significance
Select item 894767	NM_001822.7(CHN1):c.297C>T (p.Tyr99=)	CHN1	Single nucleotide variant (synonymous variant)	Duane retraction syndrome 2	GUncertain significance
Select item 2568992	NM_001822.7(CHN1):c.295T>C (p.Tyr99His)	CHN1 (Y116H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761254	NM_001822.7(CHN1):c.276C>G (p.Thr92=)	CHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552861	NM_001822.7(CHN1):c.127C>G (p.Pro43Ala)	CHN1 (P43A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144480	NM_001822.7(CHN1):c.82C>T (p.Pro28Ser)	CHN1 (P28S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 986383	NM_001822.7(CHN1):c.80C>G (p.Ala27Gly)	CHN1 (A27G)	Single nucleotide variant (missense variant +2 more)	Duane retraction syndrome 2 +1 more	GUncertain significance
Select item 753428	NM_001822.7(CHN1):c.67C>T (p.Leu23=)	CHN1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 715563	NM_001822.7(CHN1):c.66G>A (p.Gln22=)	CHN1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3061808	NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)	CHN1 (Y21C)	Single nucleotide variant (missense variant +2 more)	Duane retraction syndrome 2	GUncertain significance
Select item 17550	NM_001822.7(CHN1):c.60A>T (p.Leu20Phe)	CHN1 (L20F)	Single nucleotide variant (missense variant +2 more)	Duane retraction syndrome 2	GPathogenic
Select item 892787	NM_001822.7(CHN1):c.7C>T (p.Leu3=)	CHN1	Single nucleotide variant (synonymous variant)	Duane retraction syndrome 2	GUncertain significance
Select item 892788	NM_001822.7(CHN1):c.-23G>T	CHN1	Single nucleotide variant (5 prime UTR variant)	Duane retraction syndrome 2	GUncertain significance
Select item 332470	NM_001822.7(CHN1):c.-36C>T	CHN1	Single nucleotide variant (5 prime UTR variant)	Duane retraction syndrome 2	GUncertain significance
Select item 332471	NM_001822.7(CHN1):c.-68G>A	CHN1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 332472	NM_001822.7(CHN1):c.-74C>T	CHN1	Single nucleotide variant (5 prime UTR variant)	Duane retraction syndrome 2 +1 more	GUncertain significance
Select item 332473	NM_001822.7(CHN1):c.-104C>T	CHN1	Single nucleotide variant (5 prime UTR variant)	Duane retraction syndrome 2	GUncertain significance
Select item 332474	NM_001822.7(CHN1):c.-160C>G	CHN1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332475	NM_001822.7(CHN1):c.-271T>C	CHN1	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 332476	NM_001822.7(CHN1):c.-298C>G	CHN1	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 893596	NM_001822.7(CHN1):c.-353C>T	CHN1	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome 2	GUncertain significance
Select item 688562	GRCh37/hg19 2q31.1(chr2:175737704-175833386)x1	CHN1	Copy number loss	not provided	GUncertain significance

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Items: 96