ClinVar for Gene (Select 91147) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369312	NM_153704.6(TMEM67):c.1337A>T (p.Asp446Val)	TMEM67 (D365V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369311	NM_153704.6(TMEM67):c.431T>G (p.Leu144Trp)	TMEM67 (L144W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366760	NC_000008.10:g.(94817107_94821067)_(94821390_94822012)del	TMEM67	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366626	NM_153704.6(TMEM67):c.2100+6A>G	TMEM67	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3357686	NM_153704.6(TMEM67):c.1774-3T>A	TMEM67	Single nucleotide variant (intron variant)	TMEM67-related disorder	GUncertain significance
Select item 3357421	NM_153704.6(TMEM67):c.1774-6T>A	TMEM67	Single nucleotide variant (intron variant)	TMEM67-related disorder	GLikely benign
Select item 3356978	NM_153704.6(TMEM67):c.312+4C>T	TMEM67	Single nucleotide variant (intron variant)	TMEM67-related disorder	GUncertain significance
Select item 3356180	NM_153704.6(TMEM67):c.412A>G (p.Arg138Gly)	TMEM67 (R57G +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3356178	NM_153704.6(TMEM67):c.1439A>G (p.Asn480Ser)	TMEM67 (N399S +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3355955	NM_153704.6(TMEM67):c.1660_1661del (p.Met554fs)	TMEM67 (M473fs +1 more)	Deletion (frameshift variant +1 more)	TMEM67-related disorder	GLikely pathogenic
Select item 3354795	NM_153704.6(TMEM67):c.715-4G>T	TMEM67	Single nucleotide variant (intron variant)	TMEM67-related disorder	GUncertain significance
Select item 3352629	NM_153704.6(TMEM67):c.2399C>G (p.Thr800Ser)	TMEM67 (T719S +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3352454	NM_153704.6(TMEM67):c.224-10_224-3del	TMEM67	Deletion (intron variant)	TMEM67-related disorder	GLikely benign
Select item 3352385	NM_153704.6(TMEM67):c.10C>G (p.Arg4Gly)	TMEM67 (R4G)	Single nucleotide variant (missense variant +2 more)	TMEM67-related disorder	GUncertain significance
Select item 3352270	NM_153704.6(TMEM67):c.1404A>G (p.Ile468Met)	TMEM67 (I387M +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3350590	NM_153704.6(TMEM67):c.656T>C (p.Met219Thr)	TMEM67 (M138T +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3349494	NM_153704.6(TMEM67):c.492T>C (p.Asn164=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	TMEM67-related disorder	GLikely benign
Select item 3349287	NM_153704.6(TMEM67):c.237A>C (p.Val79=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	TMEM67-related disorder	GLikely benign
Select item 3349244	NM_153704.6(TMEM67):c.231A>C (p.Ser77=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	TMEM67-related disorder	GLikely benign
Select item 3348378	NM_153704.6(TMEM67):c.1268A>G (p.Asn423Ser)	TMEM67 (N342S +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3348144	NM_153704.6(TMEM67):c.2294A>G (p.Gln765Arg)	TMEM67 (Q684R +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3347738	NM_153704.6(TMEM67):c.2623C>G (p.His875Asp)	TMEM67 (H794D +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3347649	NM_153704.6(TMEM67):c.150C>T (p.Asp50=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	TMEM67-related disorder	GLikely benign
Select item 3347645	NM_153704.6(TMEM67):c.574T>A (p.Leu192Ile)	TMEM67 (L111I +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3347103	NM_153704.6(TMEM67):c.493_499delinsCCTTAT (p.Ala165fs)	TMEM67 (A165fs +1 more)	Indel (frameshift variant +1 more)	TMEM67-related disorder	GPathogenic
Select item 3346922	NM_153704.6(TMEM67):c.1132T>G (p.Cys378Gly)	TMEM67 (C297G +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3346918	NM_153704.6(TMEM67):c.640T>C (p.Tyr214His)	TMEM67 (Y133H +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3346874	NM_153704.6(TMEM67):c.2074G>A (p.Val692Ile)	TMEM67 (V611I +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3344365	NM_153704.6(TMEM67):c.1497T>G (p.Asp499Glu)	TMEM67 (D418E +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder	GUncertain significance
Select item 3339996	NM_153704.6(TMEM67):c.653G>A (p.Gly218Asp)	TMEM67 (G137D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339385	NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)	TMEM67 (G92R)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3327170	NM_153704.6(TMEM67):c.2731A>G (p.Met911Val)	TMEM67 (M911V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3236677	NM_153704.6(TMEM67):c.413G>T (p.Arg138Ile)	TMEM67 (R138I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GUncertain significance
Select item 3236203	NM_153704.6(TMEM67):c.2878G>T (p.Ala960Ser)	TMEM67 (A879S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11	GUncertain significance
Select item 3179617	NM_153704.6(TMEM67):c.712T>C (p.Trp238Arg)	TMEM67 (W238R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179616	NM_153704.6(TMEM67):c.2471C>G (p.Pro824Arg)	TMEM67 (P743R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3179615	NM_153704.6(TMEM67):c.176C>T (p.Ala59Val)	TMEM67 (A59V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3179614	NM_153704.6(TMEM67):c.139G>A (p.Glu47Lys)	TMEM67 (E47K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3043185	NM_153704.6(TMEM67):c.224-12_224-3del	TMEM67	Deletion (intron variant)	TMEM67-related disorder	GLikely benign
Select item 3034484	NM_153704.6(TMEM67):c.224-7_224-3del	TMEM67	Deletion (intron variant)	TMEM67-related disorder	GLikely benign
Select item 3032329	NM_153704.6(TMEM67):c.2139T>G (p.Ser713=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	TMEM67-related disorder	GLikely benign
Select item 2954513	NM_153704.6(TMEM67):c.2323-10C>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954316	NM_153704.6(TMEM67):c.1288+1G>A	TMEM67	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 2954306	NM_153704.6(TMEM67):c.576+11C>A	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954267	NM_153704.6(TMEM67):c.1675-18C>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954189	NM_153704.6(TMEM67):c.224-17T>C	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954104	NM_153704.6(TMEM67):c.1788_1789del (p.Ser597fs)	TMEM67 (S597fs +1 more)	Microsatellite (frameshift variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2953938	NM_153704.6(TMEM67):c.406+18T>C	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953937	NM_153704.6(TMEM67):c.2662-16T>C	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953866	NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953738	NM_153704.6(TMEM67):c.2069_2070del (p.Phe690fs)	TMEM67 (F609fs +1 more)	Deletion (frameshift variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2953713	NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs)	TMEM67 (Y54fs)	Deletion (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2953668	NM_153704.6(TMEM67):c.1412+12T>C	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953578	NM_153704.6(TMEM67):c.1576-9G>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953434	NM_153704.6(TMEM67):c.406+7A>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953183	NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953133	NM_153704.6(TMEM67):c.1675-8A>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952914	NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952799	NM_153704.6(TMEM67):c.1239G>C (p.Val413=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952459	NM_153704.6(TMEM67):c.877_880del (p.Asn293fs)	TMEM67 (N212fs +1 more)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2952261	NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952229	NM_153704.6(TMEM67):c.506+17G>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952133	NM_153704.6(TMEM67):c.1774-4A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952068	NM_153704.6(TMEM67):c.224-4_224-3insA	TMEM67	Insertion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951847	NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951828	NM_153704.6(TMEM67):c.2241+19A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951771	NM_153704.6(TMEM67):c.506+5G>A	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2951690	NM_153704.6(TMEM67):c.1412+13C>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951663	NM_153704.6(TMEM67):c.1576-1G>A	TMEM67	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2951584	NM_153704.6(TMEM67):c.99C>T (p.Phe33=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951443	NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951435	NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951372	NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951050	NM_153704.6(TMEM67):c.1132-1G>T	TMEM67	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2950999	NM_153704.6(TMEM67):c.1674+12G>A	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950852	NM_153704.6(TMEM67):c.39T>G (p.Val13=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950767	NM_153704.6(TMEM67):c.2100+13T>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950578	NM_153704.6(TMEM67):c.223+7C>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950555	NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950518	NM_153704.6(TMEM67):c.360C>T (p.Asp120=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950450	NM_153704.6(TMEM67):c.849T>G (p.Thr283=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950280	NM_153704.6(TMEM67):c.741A>G (p.Gln247=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950199	NM_153704.6(TMEM67):c.1675-1G>T	TMEM67	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 2950101	NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950050	NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950044	NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949908	NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)	TMEM67 (G155R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2949829	NM_153704.6(TMEM67):c.1773+13C>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949816	NM_153704.6(TMEM67):c.810A>G (p.Leu270=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949667	NM_153704.6(TMEM67):c.2659C>A (p.His887Asn)	TMEM67 (H806N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2949666	NM_153704.6(TMEM67):c.2635A>G (p.Lys879Glu)	TMEM67 (K798E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2949558	NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949550	NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter)	TMEM67 (Q666* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2949505	NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949497	NM_153704.6(TMEM67):c.1861-16T>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949413	NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign

<< First< Prev

Page of 10