Related gene-specific medical variations for Gene (Select 57545) - ClinVar

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Items: 47

	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 3235073	NM_001378615.1(CC2D2A):c.3400G>A (p.Ala1134Thr)	CC2D2A (A1085T +1 more)	Single nucleotide variant (missense variant)	COACH syndrome 2 +2 more	GUncertain significance
Select item 3062239	NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)	CC2D2A (Y223fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9	GLikely pathogenic
Select item 2690560	NM_001378615.1(CC2D2A):c.1360-1G>T	CC2D2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2688724	NM_001378615.1(CC2D2A):c.123+470A>G	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2688723	NM_001378615.1(CC2D2A):c.428T>G (p.Phe143Cys)	CC2D2A (F143C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688722	NM_001378615.1(CC2D2A):c.-18-2263T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439782	NM_001378615.1(CC2D2A):c.211C>T (p.Arg71Cys)	CC2D2A (P106L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438883	NM_001378615.1(CC2D2A):c.770T>G (p.Leu257Ter)	CC2D2A (L208* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2438876	NM_001378615.1(CC2D2A):c.2302C>T (p.Gln768Ter)	CC2D2A (Q719* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1334771	NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs)	CC2D2A (P1160fs +1 more)	Deletion (frameshift variant)	Meckel-Gruber syndrome	GPathogenic
Select item 1324020	NM_001378615.1(CC2D2A):c.1692_1699dup (p.Tyr567fs)	CC2D2A (Y518fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1324019	NM_001378615.1(CC2D2A):c.1150-1G>C	CC2D2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 982520	NM_001378615.1(CC2D2A):c.934G>A (p.Glu312Lys)	CC2D2A (E263K +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 809622	NM_001378615.1(CC2D2A):c.2348T>A (p.Phe783Tyr)	CC2D2A (F783Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 637997	NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)	CC2D2A (T1341fs +1 more)	Microsatellite (frameshift variant)	Joubert syndrome 9	GPathogenic
Select item 591535	NM_001378615.1(CC2D2A):c.3771+1G>C	CC2D2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 591381	NM_001378615.1(CC2D2A):c.3975+2dup	CC2D2A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 591271	NM_001378615.1(CC2D2A):c.3536A>T (p.Glu1179Val)	CC2D2A (E1179V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591188	NM_001378615.1(CC2D2A):c.3736C>T (p.Pro1246Ser)	CC2D2A (P1246S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522909	NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)	CC2D2A (E1495* +1 more)	Single nucleotide variant (nonsense)	COACH syndrome 1	GPathogenic
Select item 493391	NM_001378615.1(CC2D2A):c.868A>T (p.Ser290Cys)	CC2D2A (S290C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425329	NM_001378615.1(CC2D2A):c.247+448G>A	CC2D2A (R109Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 257389	NM_001378615.1(CC2D2A):c.3594+8T>C	CC2D2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 257388	NM_001378615.1(CC2D2A):c.336+32T>C	CC2D2A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 257385	NM_001378615.1(CC2D2A):c.1360-29C>G	CC2D2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 257384	NM_001378615.1(CC2D2A):c.1150-15T>C	CC2D2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 217616	NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)	CC2D2A (Q1497H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GPathogenic
Select item 217613	NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn)	CC2D2A	Deletion (inframe_indel)	Joubert syndrome 9	GPathogenic
Select item 217611	NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)	CC2D2A	Insertion (inframe_insertion)	Joubert syndrome 9	GPathogenic
Select item 217605	NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)	CC2D2A (S875* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9	GPathogenic
Select item 217603	NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala)	CC2D2A (T1581A +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GPathogenic
Select item 217600	NM_001378615.1(CC2D2A):c.3772-1G>T	CC2D2A	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 9	GPathogenic
Select item 56314	NM_001378615.1(CC2D2A):c.4496+2T>A	CC2D2A	Single nucleotide variant (splice donor variant)	Meckel syndrome, type 6	GLikely pathogenic
Select item 56308	NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs)	CC2D2A (F1195fs +1 more)	Deletion (frameshift variant)	Meckel syndrome, type 6	GLikely pathogenic
Select item 56306	NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs)	CC2D2A (H1175fs +1 more)	Insertion (frameshift variant)	Meckel syndrome, type 6	GLikely pathogenic
Select item 56302	NM_001378615.1(CC2D2A):c.3145C>G (p.Arg1049Gly)	CC2D2A (R1049G +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6	GLikely pathogenic
Select item 56298	NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg)	CC2D2A (W513R +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6	GLikely pathogenic

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Links from Gene

Items: 47