ClinVar for Gene (Select 79583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068925	NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)	TMEM231 (Q180* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3051667	NM_001077416.2(TMEM231):c.-2C>A	TMEM231	Single nucleotide variant (5 prime UTR variant)	TMEM231-related condition	GLikely benign
Select item 3044192	NM_001077418.3(TMEM231):c.139+40G>C	TMEM231 (A81P)	Single nucleotide variant (missense variant +1 more)	TMEM231-related condition	GUncertain significance
Select item 3026875	NM_001077418.3(TMEM231):c.909A>C (p.Thr303=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2947948	NM_001077418.3(TMEM231):c.140-8dup	LOC130059440, TMEM231 (N98*)	Duplication (nonsense +1 more)	Joubert syndrome 20 +1 more	GPathogenic
Select item 2946543	NM_001077418.3(TMEM231):c.139+9G>A	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2943523	NM_001077418.3(TMEM231):c.439-11A>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2941997	NM_001077418.3(TMEM231):c.33C>A (p.Val11=)	TMEM231 (S32*)	Single nucleotide variant (synonymous variant +2 more)	Meckel syndrome, type 11 +1 more	GPathogenic
Select item 2941993	NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)	TMEM231 (L33V)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2940892	NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)	TMEM231 (A37K +1 more)	Indel (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2940784	NM_001077418.3(TMEM231):c.140-29C>T	LOC130059440, TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2940065	NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)	TMEM231 (P219A +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2939943	NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2936885	NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2935426	NM_001077418.3(TMEM231):c.139+14G>A	TMEM231 (R72Q)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2934525	NM_001077418.3(TMEM231):c.140-9_140-8del	LOC130059440, TMEM231	Deletion (nonsense +1 more)	Joubert syndrome 20 +1 more	GPathogenic
Select item 2934272	NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2932750	NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)	TMEM231 (P10T)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2928859	NM_001077418.3(TMEM231):c.582+17T>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2925183	NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2921947	NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)	TMEM231 (W22* +1 more)	Insertion (nonsense +3 more)	Meckel syndrome, type 11 +1 more	GPathogenic
Select item 2921608	NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2646877	NM_001077418.3(TMEM231):c.648C>G (p.Ala216=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2636606	NM_001077418.3(TMEM231):c.664+1G>A	TMEM231	Single nucleotide variant (splice donor variant)	Joubert syndrome 20 +1 more	GConflicting classifications of pathogenicity
Select item 2570144	NM_001077418.3(TMEM231):c.865A>T (p.Ile289Phe)	TMEM231 (I289F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540871	NM_001077418.3(TMEM231):c.278A>T (p.Gln93Leu)	TMEM231 (Q146L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529767	NM_001077418.3(TMEM231):c.23C>T (p.Ser8Phe)	TMEM231 (S8F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498039	NM_001077418.3(TMEM231):c.544C>G (p.Gln182Glu)	TMEM231 (Q182E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2485628	NM_001077418.3(TMEM231):c.712G>A (p.Ala238Thr)	TMEM231 (A238T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478908	NM_001077418.3(TMEM231):c.229A>C (p.Ser77Arg)	TMEM231 (S77R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2437110	NM_001077418.3(TMEM231):c.878A>C (p.Gln293Pro)	TMEM231 (Q177P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2423622	NC_000016.9:g.(?_75573892)_(75576601_?)dup	TMEM231	Duplication	Joubert syndrome 20 +1 more	GBenign
Select item 2423621	NC_000016.9:g.(?_75512539)_(75576601_?)del	CHST5, CHST6 +1 more	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 2423619	NC_000016.9:g.(?_75579704)_(75590169_?)dup	TMEM231	Duplication	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2423618	NC_000016.9:g.(?_75589682)_(75690509_?)dup	ADAT1, GABARAPL2 +3 more	Duplication	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2423617	NC_000016.9:g.(?_75589682)_(75590169_?)del	TMEM231	Deletion	Joubert syndrome 20 +1 more	GPathogenic
Select item 2419799	NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)	TMEM231 (A149T +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2417589	NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2417002	NM_001077418.2(TMEM231):c.-59G>A	TMEM231 (A2T)	Single nucleotide variant (missense variant)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2416196	NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)	TMEM231 (D190G +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2331569	NM_001077418.3(TMEM231):c.226G>C (p.Glu76Gln)	TMEM231 (E129Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316315	NM_001077418.3(TMEM231):c.497C>G (p.Pro166Arg)	TMEM231 (P50R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315275	NM_001077418.3(TMEM231):c.932G>T (p.Cys311Phe)	TMEM231 (C311F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288244	NM_001077418.3(TMEM231):c.748C>T (p.Arg250Ter)	TMEM231 (R134* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285634	NM_001077418.3(TMEM231):c.548C>T (p.Pro183Leu)	TMEM231 (P183L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276400	NM_001077418.3(TMEM231):c.168G>T (p.Glu56Asp)	LOC130059440, TMEM231 (E109D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261486	NM_001077418.3(TMEM231):c.931T>G (p.Cys311Gly)	TMEM231 (C311G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201584	NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2201337	NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)	TMEM231 (A239E +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2197879	NM_001077418.3(TMEM231):c.438C>T (p.His146=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2195805	NM_001077418.3(TMEM231):c.140-39G>A	LOC130059440, TMEM231 (G87D)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2189886	NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)	TMEM231 (M25T)	Single nucleotide variant (synonymous variant +2 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2189147	NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)	TMEM231 (S26N)	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2181351	NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)	TMEM231 (P10R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2180546	NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)	LOC130059440, TMEM231 (R52Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2180516	NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)	TMEM231 (V175L +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2178484	NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2174961	NM_001077418.3(TMEM231):c.665-13G>C	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2174204	NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)	LOC130059440, TMEM231 (Y108C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2170892	NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2166575	NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)	TMEM231 (V355M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2165068	NM_001077418.3(TMEM231):c.139+39_139+40del	TMEM231 (R82fs)	Deletion (intron variant +1 more)	Joubert syndrome 20 +1 more	GPathogenic
Select item 2163906	NM_001077418.3(TMEM231):c.-22G>C	TMEM231 (R14P)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2163316	NM_001077418.3(TMEM231):c.582+8C>T	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2157161	NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)	TMEM231 (G253R +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2153810	NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)	TMEM231 (Q312H +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2152744	NM_001077418.3(TMEM231):c.-16C>A	TMEM231 (A16D)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2150900	NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)	TMEM231 (R91W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2150889	NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)	TMEM231 (A123P +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2147826	NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2146205	NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)	TMEM231 (D260H +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2145398	NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)	TMEM231 (S159G +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2142847	NM_001077418.3(TMEM231):c.770+20G>A	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2138227	NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)	TMEM231 (I171M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 2136203	NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)	TMEM231 (N246D +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 2131305	NM_001077418.3(TMEM231):c.139+44G>T	TMEM231 (R82L)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2130733	NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)	TMEM231 (I116M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2130345	NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)	TMEM231 (G361* +2 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2126949	NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)	TMEM231 (Q146H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2123648	NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)	TMEM231 (N274S +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2122983	NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2118927	NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)	TMEM231 (P217A +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2115318	NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2113486	NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2111271	NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)	TMEM231 (Q53H +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2108766	NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)	TMEM231 (T67P +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2103392	NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)	TMEM231 (V119A +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2102022	NM_001077418.3(TMEM231):c.140-5C>T	LOC130059440, TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2094897	NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2089582	NM_001077418.3(TMEM231):c.583-3C>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2088537	NM_001077418.3(TMEM231):c.665-19_665-13del	TMEM231	Microsatellite (intron variant)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2084428	NM_001077418.2(TMEM231):c.-61T>G	TMEM231 (M1R)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2082197	NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2080962	NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2080155	NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)	TMEM231 (R16H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +2 more	GUncertain significance
Select item 2078478	NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)	TMEM231 (P112A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2076425	NM_001077418.3(TMEM231):c.771-4A>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2072621	NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)	TMEM231 (P10A)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2071442	NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign

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