Related gene-specific medical variations for Gene (Select 91147) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245504	NC_000008.10:g.(?_94777614)_(94777894_?)del	TMEM67	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3245503	NC_000008.10:g.(?_94827513)_(94827695_?)del	TMEM67	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3065199	NM_153704.6(TMEM67):c.232T>G (p.Cys78Gly)	TMEM67 (C78G)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1	GUncertain significance
Select item 2442071	NM_153704.6(TMEM67):c.2339T>C (p.Leu780Ser)	TMEM67 (L699S +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GUncertain significance
Select item 2437118	NM_153704.6(TMEM67):c.2248T>C (p.Phe750Leu)	TMEM67 (F669L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434174	NM_153704.6(TMEM67):c.2322+1G>A	TMEM67	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1323695	NM_153704.6(TMEM67):c.1289-2del	TMEM67	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1319812	NM_153704.6(TMEM67):c.1960+2T>C	TMEM67	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1252094	NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr)	TMEM67 (S695T +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GPathogenic
Select item 1252092	NM_153704.6(TMEM67):c.2306del (p.Leu769fs)	TMEM67 (L688fs +1 more)	Deletion (frameshift variant +1 more)	Meckel syndrome, type 3	GPathogenic
Select item 931688	NM_153704.6(TMEM67):c.406+1349G>A	TMEM67 (R32K)	Single nucleotide variant (missense variant +1 more)	RHYNS syndrome	GUncertain significance
Select item 931538	NM_153704.6(TMEM67):c.2908-1G>T	TMEM67	Single nucleotide variant (splice acceptor variant)	RHYNS syndrome	GPathogenic
Select item 813578	NM_153704.6(TMEM67):c.406+1370C>T	TMEM67 (T39I)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 591905	NM_153704.6(TMEM67):c.2702T>G (p.Leu901Arg)	TMEM67 (L820R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591807	NM_153704.6(TMEM67):c.2647T>C (p.Ser883Pro)	TMEM67 (S802P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591631	NM_153704.6(TMEM67):c.2890A>G (p.Thr964Ala)	TMEM67 (T883A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591505	NM_153704.6(TMEM67):c.1063C>T (p.Gln355Ter)	TMEM67 (Q274* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591439	NM_153704.6(TMEM67):c.458G>T (p.Cys153Phe)	TMEM67 (C153F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591420	NM_153704.6(TMEM67):c.185G>A (p.Cys62Tyr)	TMEM67 (C62Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 591200	NM_153704.6(TMEM67):c.1122C>A (p.Tyr374Ter)	TMEM67 (Y293* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591145	NM_153704.6(TMEM67):c.3G>T (p.Met1Ile)	TMEM67 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 217731	NM_153704.6(TMEM67):c.2322+5del	TMEM67	Deletion (intron variant)	Joubert syndrome 6	GLikely pathogenic
Select item 217730	NM_153704.6(TMEM67):c.2661+5G>A	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6	GLikely pathogenic
Select item 217728	NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)	TMEM67 (E280* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6	GPathogenic
Select item 217727	NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu)	TMEM67 (G853E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217719	NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu)	TMEM67 (Q295E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217718	NM_153704.6(TMEM67):c.2368C>A (p.His790Asn)	TMEM67 (H709N +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217716	NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)	TMEM67 (T163A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217713	NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser)	TMEM67 (P404S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 217709	NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)	TMEM67 (P130R)	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 6	GPathogenic
Select item 217708	NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu)	TMEM67 (F556L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 56789	NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys)	TMEM67 (W215C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56788	NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe)	TMEM67 (S164F +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56780	NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro)	TMEM67 (L885P +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56779	NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs)	TMEM67 (K897fs +1 more)	Insertion (frameshift variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56778	NM_153704.6(TMEM67):c.2561dup (p.Asn854fs)	TMEM67 (N773fs +1 more)	Duplication (frameshift variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56776	NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter)	TMEM67 (E767* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56770	NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg)	TMEM67 (W587R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56769	NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys)	TMEM67 (Y54C)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56768	NM_153704.6(TMEM67):c.1538_1539del (p.Thr512_Tyr513insTer)	TMEM67	Microsatellite (nonsense +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56766	NM_153704.6(TMEM67):c.1336G>C (p.Asp446His)	TMEM67 (D365H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3	GLikely pathogenic
Select item 56763	NM_153704.6(TMEM67):c.1065+1del	TMEM67	Deletion (splice donor variant)	Meckel syndrome, type 3	GLikely pathogenic

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Links from Gene

Items: 42