C0431399[trait identifier] AND "UW Hindbrain Malformation Research Pro - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 175

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 97024	NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	IFT172 (R1544C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 427931	NM_001352754.2(ARMC9):c.51+5G>T	ARMC9	Single nucleotide variant (intron variant)	Joubert syndrome 30	GUncertain significance
Select item 427930	NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)	ARMC9 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 427933	NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)	ARMC9 (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 427937	NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)	ARMC9 (R343S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30	GUncertain significance
Select item 427932	NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)	ARMC9 (R343C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30 +1 more	GPathogenic/Likely pathogenic
Select item 427939	NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys)	ARMC9 (R446C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 427935	NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)	ARMC9 (G492R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 427934	NM_001352754.2(ARMC9):c.1474+1G>C	ARMC9	Single nucleotide variant (splice donor variant)	Joubert syndrome 30 +2 more	GPathogenic/Likely pathogenic
Select item 427936	NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu)	ARMC9 (P520L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 30 +2 more	GPathogenic/Likely pathogenic
Select item 166801	NM_001378615.1(CC2D2A):c.1017+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 217618	NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	CC2D2A (R520* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9 +5 more	GPathogenic/Likely pathogenic
Select item 217610	NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)	CC2D2A (L559P +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 745	NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)	CC2D2A (R950* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9 +5 more	GPathogenic
Select item 217604	NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)	CC2D2A (E1000V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 217602	NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)	CC2D2A (R1019* +1 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 217601	NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)	CC2D2A (V1045A +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 217595	NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)	CC2D2A (Q1096H +1 more)	Single nucleotide variant (missense variant)	Ciliopathy +3 more	GConflicting classifications of pathogenicity
Select item 56303	NM_001080522.2(CC2D2A):c.3289delG	CC2D2A	Deletion (splice acceptor variant)	See cases +6 more	GPathogenic
Select item 56304	NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)	CC2D2A (T1114M +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +4 more	GConflicting classifications of pathogenicity
Select item 748	NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)	CC2D2A (T1116M +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 743	NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	CC2D2A (P1122S +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 217620	NM_001378615.1(CC2D2A):c.3594+5G>A	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 217608	NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)	CC2D2A (I1199T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 217599	NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)	CC2D2A (P1250fs +1 more)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 56309	NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)	CC2D2A (E1259* +1 more)	Duplication (nonsense)	Familial aplasia of the vermis +5 more	GPathogenic
Select item 217597	NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)	CC2D2A (R1284C +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +3 more	GPathogenic/Likely pathogenic
Select item 217596	NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)	CC2D2A (V1298fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9 +2 more	GPathogenic
Select item 217617	NM_001378615.1(CC2D2A):c.3975+4_3975+7del	CC2D2A	Microsatellite (splice donor variant)	Joubert syndrome 9 +2 more	GPathogenic
Select item 217619	NM_001378615.1(CC2D2A):c.3976-3C>A	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 217612	NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)	CC2D2A (R1330Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Joubert syndrome 9 +17 more	GPathogenic
Select item 217594	NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)	CC2D2A (V1430A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GPathogenic/Likely pathogenic
Select item 744	NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)	CC2D2A (R1528C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 217614	NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)	CC2D2A (L1534V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 217607	NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	CC2D2A (D1556V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 217606	NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)	CC2D2A (S1615fs +1 more)	Microsatellite (frameshift variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 217569	NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)	CPLANE1 (R3020* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +5 more	GPathogenic/Likely pathogenic
Select item 217532	NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	AHI1 (H896R)	Single nucleotide variant (missense variant)	AHI1-related disorder +3 more	GPathogenic
Select item 217539	NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)	AHI1 (G766E)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 217525	NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	AHI1 (R738*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 156382	NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	AHI1 (W725*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis +2 more	GPathogenic/Likely pathogenic
Select item 217545	NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	AHI1 (W725R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2015	NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	AHI1 (R723Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217533	NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)	AHI1 (Y701fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 217528	NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)	AHI1 (T671I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 217548	NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)	AHI1 (D666V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 217544	NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)	AHI1 (D659V)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GPathogenic
Select item 217535	NM_001134831.2(AHI1):c.1626+1G>A	AHI1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 217534	NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)	AHI1 (R506*)	Single nucleotide variant (nonsense)	Joubert syndrome 3 +1 more	GPathogenic
Select item 217523	NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	AHI1 (Q423*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +5 more	GPathogenic
Select item 217543	NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	AHI1 (W420*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 217527	NM_001134831.2(AHI1):c.1152-2A>G	AHI1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 3 +1 more	GPathogenic
Select item 217536	NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	AHI1 (T304fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 217538	NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	AHI1 (S221*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 217714	NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)	TMEM67 (P82R)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 212409	NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	TMEM67 (K99N)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 217712	NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)	TMEM67 (C100*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 6 +7 more	GPathogenic
Select item 217721	NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)	TMEM67 (R172Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 56783	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	TMEM67 (G195fs +1 more)	Deletion (frameshift variant +1 more)	Meckel syndrome, type 3 +6 more	GPathogenic/Likely pathogenic
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 11 +11 more	GPathogenic
Select item 56787	NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)	TMEM67 (W144* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 216826	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	TMEM67 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 1387	NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	TMEM67 (M252T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GPathogenic
Select item 217710	NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	TMEM67 (M176V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +7 more	GPathogenic/Likely pathogenic
Select item 217711	NM_153704.6(TMEM67):c.978+3A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 56762	NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	TMEM67 (L268S +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 217726	NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	TMEM67 (T291K +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +8 more	GPathogenic/Likely pathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 217724	NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)	TMEM67 (R370* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 1371	NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)	TMEM67 (Y513C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 217707	NM_153704.6(TMEM67):c.1674+3A>G	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1381	NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	TMEM67 (F590S +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +4 more	GPathogenic
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +26 more	GPathogenic/Likely pathogenic
Select item 217729	NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	TMEM67 (L615F +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +5 more	GConflicting classifications of pathogenicity
Select item 217717	NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	TMEM67 (R683* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6 +8 more	GPathogenic
Select item 56773	NM_153704.6(TMEM67):c.2322+2dup	TMEM67	Duplication (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1378	NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	TMEM67 (I833T +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +10 more	GPathogenic/Likely pathogenic
Select item 217658	NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)	INPP5E (Q632fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis	GPathogenic
Select item 217656	NM_019892.6(INPP5E):c.1760del (p.Val587fs)	INPP5E (V586fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 217657	NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)	INPP5E (R585H +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 217654	NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)	INPP5E (S562G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 217660	NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)	INPP5E (P526L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217665	NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)	INPP5E (D490Y +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 399	NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)	INPP5E (R435Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 217664	NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)	INPP5E (S417P)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217663	NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)	INPP5E (V388L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217659	NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)	INPP5E (C385Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 217655	NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)	INPP5E (T355M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GPathogenic
Select item 217661	NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)	INPP5E (G341S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 217662	NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)	INPP5E (P315L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217653	NM_019892.6(INPP5E):c.907G>A (p.Val303Met)	INPP5E (V303M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217706	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	TMEM216	Single nucleotide variant (synonymous variant)	Joubert syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 217705	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	TMEM216 (R12C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	TMEM216 (R73L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 56384	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	TMEM216 (R24* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 217704	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	TMEM216 (L133* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 217560	NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu)	C2CD3 (G1756E)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 217559	NM_001286577.2(C2CD3):c.4951+1G>T	C2CD3	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis	GPathogenic
Select item 144038	NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter)	C2CD3 (R62*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis	GPathogenic

<< First< Prev

Page of 2