ClinVar for MedGen (Select 98464) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246619	NC_000004.11:g.(?_15511794)_(15573510_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246617	NC_000004.11:g.(?_15482308)_(15482471_?)dup	CC2D2A	Duplication	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 3246616	NC_000004.11:g.(?_15504032)_(15513066_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246615	NC_000004.11:g.(?_15482308)_(15560900_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246614	NC_000004.11:g.(?_15599010)_(15603048_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246613	NC_000004.11:g.(?_15477557)_(15504566_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246612	NC_000004.11:g.(?_15477557)_(15482471_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246611	NC_000004.11:g.(?_15554761)_(15556853_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246610	NC_000004.11:g.(?_15529050)_(15554948_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3246609	NC_000004.11:g.(?_15477557)_(15477615_?)del	CC2D2A	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3245981	NC_000006.11:g.(?_135772926)_(135778775_?)del	AHI1	Deletion	Familial aplasia of the vermis	GLikely pathogenic
Select item 3245980	NC_000006.11:g.(?_135748388)_(135757374_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245979	NC_000006.11:g.(?_135679250)_(135788792_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245977	NC_000006.11:g.(?_135748285)_(135763872_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245976	NC_000006.11:g.(?_135639637)_(135639774_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3245975	NC_000006.11:g.(?_135759493)_(135759656_?)del	AHI1	Deletion	Familial aplasia of the vermis	GPathogenic
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 3245127	NC_000009.11:g.(?_139333040)_(139333871_?)dup	INPP5E	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 3245126	NC_000009.11:g.(?_139265559)_(139333126_?)del	CARD9, ENTR1 +3 more	Deletion	Familial aplasia of the vermis	GPathogenic
Select item 3244278	NC_000012.11:g.(?_88209614)_(88484553_?)del	C12orf50, CEP290 +1 more	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244277	NC_000012.11:g.(?_88209612)_(88484553_?)del	C12orf50, CEP290 +1 more	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244276	NC_000012.11:g.(?_88517531)_(88519028_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 3244275	NC_000012.11:g.(?_88452605)_(88454791_?)dup	CEP290	Duplication	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 3244274	NC_000012.11:g.(?_88452605)_(88525015_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244273	NC_000012.11:g.(?_88502823)_(88525015_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244272	NC_000012.11:g.(?_88484485)_(88487772_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244270	NC_000012.11:g.(?_88465051)_(88496808_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244269	NC_000012.11:g.(?_88472849)_(88535092_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244268	NC_000012.11:g.(?_88481537)_(88523673_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 3244267	NC_000012.11:g.(?_88471559)_(88471893_?)del	CEP290	Deletion	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 3244266	NC_000012.11:g.(?_124171363)_(124242579_?)del	ATP6V0A2, TCTN2	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3244265	NC_000012.11:g.(?_111057621)_(111057781_?)del	TCTN1	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3244138	NC_000023.10:g.(?_13732526)_(13787227_?)dup	OFD1, TRAPPC2	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 3243373	NC_000016.9:g.(?_53672254)_(53676298_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 3243372	NC_000016.9:g.(?_53720325)_(53721897_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3243370	NC_000016.9:g.(?_53674925)_(53734635_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3243369	NC_000016.9:g.(?_53698762)_(53698941_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3242975	NC_000017.10:g.(?_56289719)_(56294117_?)del	MKS1	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3242974	NC_000017.10:g.(?_56293914)_(56294114_?)del	MKS1	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 3075970	NM_001329943.3(KIAA0586):c.2854_2855insG (p.Ile952fs)	KIAA0586 (I1005fs +6 more)	Insertion (frameshift variant)	Joubert syndrome 23 +1 more	GLikely pathogenic
Select item 3023116	NM_001134831.2(AHI1):c.1912+17C>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3022904	NM_001173990.3(TMEM216):c.432-19T>C	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3022719	NM_001134831.2(AHI1):c.11-6T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3022059	NM_019892.6(INPP5E):c.1894C>T (p.Leu632=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3021915	NM_001134831.2(AHI1):c.1152-1G>A	AHI1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GPathogenic
Select item 3021904	NM_001173990.3(TMEM216):c.432-16G>C	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3021105	NM_001134831.2(AHI1):c.429G>A (p.Pro143=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3020089	NM_001134831.2(AHI1):c.1338C>T (p.Phe446=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3019762	NM_001173990.3(TMEM216):c.229+19A>G	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3019381	NM_001134831.2(AHI1):c.135+15A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3018594	NM_001134831.2(AHI1):c.3110-20dup	AHI1	Duplication (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3018181	NM_001134831.2(AHI1):c.2502A>G (p.Ala834=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3017609	NM_001134831.2(AHI1):c.2962-16A>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3017311	NM_019892.6(INPP5E):c.1160-16G>A	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3017122	NM_019892.6(INPP5E):c.1146C>A (p.Ile382=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3015196	NM_001134831.2(AHI1):c.2178A>G (p.Lys726=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3014847	NM_001134831.2(AHI1):c.1151+12dup	AHI1	Duplication (intron variant)	Familial aplasia of the vermis	GBenign
Select item 3014619	NM_001134831.2(AHI1):c.3069C>G (p.Thr1023=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3014591	NM_019892.6(INPP5E):c.1279+19G>C	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3014132	NM_001134831.2(AHI1):c.1818T>C (p.Asn606=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3013922	NM_019892.6(INPP5E):c.1206G>A (p.Lys402=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3013603	NM_001173990.3(TMEM216):c.432-12T>C	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3012438	NM_001173990.3(TMEM216):c.35-18T>A	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3010852	NM_001134831.2(AHI1):c.3166-9C>T	AHI1, LOC128669075	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3009642	NM_001134831.2(AHI1):c.1398C>T (p.Asn466=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3008802	NM_001134831.2(AHI1):c.2493-5T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3008392	NM_019892.6(INPP5E):c.354C>T (p.Ser118=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3006355	NM_001134831.2(AHI1):c.1441-15A>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3005958	NM_001134831.2(AHI1):c.135+10T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3004215	NM_001134831.2(AHI1):c.1913-18_1913-17insTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA	AHI1	Insertion (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001579	NM_001134831.2(AHI1):c.2805A>C (p.Gly935=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001320	NM_001134831.2(AHI1):c.3384T>C (p.Pro1128=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001150	NM_001134831.2(AHI1):c.177T>C (p.Thr59=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3001111	NM_001134831.2(AHI1):c.1608A>G (p.Gly536=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 3000974	NM_001134831.2(AHI1):c.3486-11C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 3000173	NM_001134831.2(AHI1):c.54A>G (p.Glu18=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2999795	NM_001134831.2(AHI1):c.189+13A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2999355	NM_001134831.2(AHI1):c.1913-1G>A	AHI1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2997855	NM_001134831.2(AHI1):c.2781T>C (p.Ala927=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2996316	NM_001134831.2(AHI1):c.3427-1G>A	AHI1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
Select item 2995958	NM_001134831.2(AHI1):c.2624-16CT[2]	AHI1	Microsatellite (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2990114	NM_001134831.2(AHI1):c.931+14A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2988549	NM_001134831.2(AHI1):c.3328+13C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2986933	NM_001134831.2(AHI1):c.3426+11T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2986915	NM_001134831.2(AHI1):c.189+20A>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2984334	NM_019892.6(INPP5E):c.1221G>A (p.Leu407=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2983341	NM_001134831.2(AHI1):c.2036+9C>A	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2983075	NM_001134831.2(AHI1):c.2226T>G (p.Val742=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2978680	NM_001134831.2(AHI1):c.3069C>T (p.Thr1023=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2978312	NM_001134831.2(AHI1):c.1029T>C (p.Leu343=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2978087	NM_001134831.2(AHI1):c.2544T>C (p.His848=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2977271	NM_001134831.2(AHI1):c.2844C>G (p.Ala948=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2977117	NM_001134831.2(AHI1):c.1779+20_1779+32del	AHI1	Deletion (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2977083	NM_019892.6(INPP5E):c.936+13G>T	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2976233	NM_001134831.2(AHI1):c.993C>T (p.Ser331=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 2975947	NM_001173990.3(TMEM216):c.142C>T (p.Leu48=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 2973453	NM_019892.6(INPP5E):c.1550-13C>T	INPP5E	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2972974	NM_001134831.2(AHI1):c.3109+19T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 2971911	NM_001134831.2(AHI1):c.1026C>T (p.Asp342=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign

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