ClinVar for MedGen (Select 815682) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 358

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243522	NC_000016.9:g.(?_75579704)_(75579872_?)del	TMEM231	Deletion	Meckel syndrome, type 11 +1 more	GPathogenic
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)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2943523	NM_001077418.3(TMEM231):c.439-11A>G	TMEM231	Single nucleotide variant (intron variant)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2941997	NM_001077418.3(TMEM231):c.33C>A (p.Val11=)	TMEM231 (S32*)	Single nucleotide variant (nonsense +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 (synonymous 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 +1 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)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2932750	NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)	TMEM231 (P10T)	Single nucleotide variant (synonymous 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)	Joubert syndrome 20 +1 more	GPathogenic
Select item 2921608	NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
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	TMEM231, ADAT1 +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 +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2417589	NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2417002	NC_000016.10:g.75556268C>T	TMEM231 (A2T)	Single nucleotide variant (missense variant)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2416196	NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)	TMEM231 (D190G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	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 +1 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)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2189886	NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)	TMEM231 (M25T)	Single nucleotide variant (missense 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 (missense 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 (V291L +1 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)	Joubert syndrome 20 +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 +1 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 (frameshift 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 +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2153810	NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)	TMEM231 (Q312H +1 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 (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2150889	NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)	TMEM231 (A292P +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +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 +1 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 (S275G +1 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)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2138227	NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)	TMEM231 (I287M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2136203	NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)	TMEM231 (N246D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 (I232M +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2130345	NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)	TMEM231 (G361* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 11 +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 +1 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 +1 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)	Joubert syndrome 20 +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 (Q169H +1 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 (V288A +1 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)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2094897	NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +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)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2084428	NC_000016.10:g.75556270A>C	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)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2080962	NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +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)	Inborn genetic diseases +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 (synonymous 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
Select item 2070859	NM_001077418.3(TMEM231):c.-25C>T	TMEM231 (S13L)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2067472	NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2066845	NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)	TMEM231 (Y273F +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2054331	NM_001077418.3(TMEM231):c.-37G>A	TMEM231 (W9*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 20 +1 more	GPathogenic
Select item 2052564	NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2042727	NM_001077418.3(TMEM231):c.675C>A (p.Val225=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2042720	NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)	TMEM231 (I289V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 2042387	NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)	TMEM231 (D309V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2041174	NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)	TMEM231 (M265V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2040501	NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)	TMEM231 (V120L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 2040026	NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2024375	NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)	TMEM231 (H212Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +1 more	GUncertain significance
Select item 2020871	NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)	TMEM231 (A32T)	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2019521	NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2015325	NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Meckel syndrome, type 11 +1 more	GLikely benign
Select item 2010555	NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2009275	NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)	TMEM231	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 2000685	NM_001077418.3(TMEM231):c.771-17T>G	TMEM231	Single nucleotide variant (intron variant)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1997207	NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)	TMEM231 (M1V)	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 20 +1 more	GLikely benign
Select item 1995518	NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)	TMEM231 (T56I)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 11 +1 more	GUncertain significance

<< First< Prev

Page of 4