ClinVar for Gene (Select 57545) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369287	NM_001378615.1(CC2D2A):c.3848A>T (p.Asn1283Ile)	CC2D2A (N1175I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368077	NM_001378615.1(CC2D2A):c.4744G>A (p.Gly1582Arg)	CC2D2A (G1474R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367821	NM_001378615.1(CC2D2A):c.170T>C (p.Leu57Pro)	CC2D2A (L57P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366747	NM_001378615.1(CC2D2A):c.3829T>C (p.Cys1277Arg)	CC2D2A (C1169R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366668	NM_001378615.1(CC2D2A):c.1264_1268delinsGGCATGTTTTGGCAGCCA (p.Ser422fs)	CC2D2A (S373fs +1 more)	Indel (frameshift variant)	Meckel syndrome, type 6	GPathogenic
Select item 3363858	NM_001378615.1(CC2D2A):c.4702T>A (p.Tyr1568Asn)	CC2D2A (Y1460N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360145	NM_001378615.1(CC2D2A):c.394C>G (p.Arg132Gly)	CC2D2A (R132G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358161	NM_001378615.1(CC2D2A):c.247+409C>T	CC2D2A (T96M)	Single nucleotide variant (missense variant +2 more)	CC2D2A-related disorder	GUncertain significance
Select item 3352488	NM_001378615.1(CC2D2A):c.123+423A>G	CC2D2A (T44A)	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GUncertain significance
Select item 3350537	NM_001378615.1(CC2D2A):c.4437+10T>A	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3348017	NM_001378615.1(CC2D2A):c.4780G>C (p.Ala1594Pro)	CC2D2A (A1486P +2 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3345993	NM_001378615.1(CC2D2A):c.4065+1G>T	CC2D2A	Single nucleotide variant (splice donor variant)	CC2D2A-related disorder	GLikely pathogenic
Select item 3345875	NM_001378615.1(CC2D2A):c.2036A>T (p.Lys679Met)	CC2D2A (K630M +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3345759	NM_001378615.1(CC2D2A):c.1272G>A (p.Glu424=)	CC2D2A	Single nucleotide variant (synonymous variant)	CC2D2A-related disorder	GLikely benign
Select item 3344033	NM_001378615.1(CC2D2A):c.123+435C>T	CC2D2A (R48*)	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GUncertain significance
Select item 3339465	NM_001378615.1(CC2D2A):c.1160dup (p.Tyr387Ter)	CC2D2A (Y338* +1 more)	Duplication (nonsense +1 more)	Meckel syndrome, type 6	GPathogenic
Select item 3339159	NM_001378615.1(CC2D2A):c.4555T>A (p.Trp1519Arg)	CC2D2A (W1411R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337890	NM_001378615.1(CC2D2A):c.4386G>A (p.Trp1462Ter)	CC2D2A (W1354* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3263725	NM_001378615.1(CC2D2A):c.4568G>C (p.Cys1523Ser)	CC2D2A (C1474S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263724	NM_001378615.1(CC2D2A):c.2497A>G (p.Lys833Glu)	CC2D2A (K784E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263723	NM_001378615.1(CC2D2A):c.4426T>C (p.Ser1476Pro)	CC2D2A (S1368P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263722	NM_001378615.1(CC2D2A):c.626A>G (p.Lys209Arg)	CC2D2A (K160R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256946	NM_001378615.1(CC2D2A):c.181del (p.Gln61fs)	CC2D2A (P96fs +2 more)	Deletion (frameshift variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3251617	NM_001378615.1(CC2D2A):c.3451G>C (p.Val1151Leu)	CC2D2A (V1102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251305	NM_001378615.1(CC2D2A):c.4179+6A>T	CC2D2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 3239051	NM_001378615.1(CC2D2A):c.482A>C (p.Gln161Pro)	CC2D2A (Q112P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235237	NM_001378615.1(CC2D2A):c.3301C>A (p.Pro1101Thr)	CC2D2A (P1052T +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6	GUncertain significance
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 3138170	NM_001378615.1(CC2D2A):c.536C>A (p.Pro179His)	CC2D2A (P130H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138169	NM_001378615.1(CC2D2A):c.4374G>T (p.Arg1458Ser)	CC2D2A (R1409S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138167	NM_001378615.1(CC2D2A):c.2401G>C (p.Val801Leu)	CC2D2A (V801L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138166	NM_001378615.1(CC2D2A):c.1861C>T (p.Pro621Ser)	CC2D2A (P621S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3138165	NM_001378615.1(CC2D2A):c.1562A>G (p.Glu521Gly)	CC2D2A (E472G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
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 3061384	NM_001378615.1(CC2D2A):c.686A>G (p.Glu229Gly)	CC2D2A (E180G +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3061368	NM_001378615.1(CC2D2A):c.3472G>A (p.Glu1158Lys)	CC2D2A (E1109K +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3061274	NM_001378615.1(CC2D2A):c.541-7T>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3060096	NM_001378615.1(CC2D2A):c.1359+10A>T	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3053332	NM_001378615.1(CC2D2A):c.540+9T>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3051059	NM_001378615.1(CC2D2A):c.332C>A (p.Ala111Glu)	CC2D2A (A111E +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3049315	NM_001378615.1(CC2D2A):c.123+528T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3048086	NM_001378615.1(CC2D2A):c.247+419C>T	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3046242	NM_001378615.1(CC2D2A):c.2004-10C>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3035384	NM_001378615.1(CC2D2A):c.247+410G>T	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3034513	NM_001378615.1(CC2D2A):c.247+436C>T	CC2D2A (T105I)	Single nucleotide variant (missense variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3034339	NM_001378615.1(CC2D2A):c.717+5T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3034226	NM_001378615.1(CC2D2A):c.717+6T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3033926	NM_001378615.1(CC2D2A):c.717+4T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3033913	NM_001378615.1(CC2D2A):c.717+9T>G	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 3031321	NM_001378615.1(CC2D2A):c.123+440C>T	CC2D2A	Single nucleotide variant (5 prime UTR variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3031114	NM_001378615.1(CC2D2A):c.2108C>G (p.Ala703Gly)	CC2D2A (A654G +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder	GUncertain significance
Select item 3030701	NM_001378615.1(CC2D2A):c.247+452C>A	CC2D2A	Single nucleotide variant (synonymous variant +2 more)	CC2D2A-related disorder	GLikely benign
Select item 3029675	NM_001378615.1(CC2D2A):c.1359+4C>A	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder	GLikely benign
Select item 2954560	NM_001378615.1(CC2D2A):c.453A>G (p.Val151=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954559	NM_001378615.1(CC2D2A):c.3594+9C>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954528	NM_001378615.1(CC2D2A):c.669G>A (p.Glu223=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954454	NM_001378615.1(CC2D2A):c.3975+11C>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954449	NM_001378615.1(CC2D2A):c.3496-8del	CC2D2A	Deletion (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954404	NM_001378615.1(CC2D2A):c.4497-6G>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954369	NM_001378615.1(CC2D2A):c.3734_3744del (p.Glu1245fs)	CC2D2A (E1245fs +1 more)	Deletion (frameshift variant)	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2954351	NM_001378615.1(CC2D2A):c.2934A>G (p.Ser978=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954315	NM_001378615.1(CC2D2A):c.1044C>T (p.Gly348=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954291	NM_001378615.1(CC2D2A):c.3672G>A (p.Arg1224=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954256	NM_001378615.1(CC2D2A):c.439-13del	CC2D2A	Deletion (intron variant)	Meckel-Gruber syndrome +1 more	GBenign
Select item 2954249	NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter)	CC2D2A (Q667* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2954208	NM_001378615.1(CC2D2A):c.3399-12G>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954163	NM_001378615.1(CC2D2A):c.3771+16T>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954161	NM_001378615.1(CC2D2A):c.618A>C (p.Ser206=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954141	NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)	CC2D2A (E857fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2954113	NM_001378615.1(CC2D2A):c.4014G>A (p.Leu1338=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2954069	NM_001378615.1(CC2D2A):c.4675-13T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954016	NM_001378615.1(CC2D2A):c.4440del (p.Glu1481fs)	CC2D2A (E1481fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2953986	NM_001378615.1(CC2D2A):c.1765-10A>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953917	NM_001378615.1(CC2D2A):c.1764+17T>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953808	NM_001378615.1(CC2D2A):c.3595-5C>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953795	NM_001378615.1(CC2D2A):c.2182-4T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953715	NM_001378615.1(CC2D2A):c.4315-15T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2953567	NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter)	CC2D2A (E108* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2953566	NM_001378615.1(CC2D2A):c.1790_1809del (p.Gln597fs)	CC2D2A (Q548fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2953393	NM_001378615.1(CC2D2A):c.439-13T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953391	NM_001378615.1(CC2D2A):c.2626-6T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953376	NM_001378615.1(CC2D2A):c.2259C>G (p.Val753=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953170	NM_001378615.1(CC2D2A):c.3288+12T>A	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953144	NM_001378615.1(CC2D2A):c.2004-6T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953088	NM_001378615.1(CC2D2A):c.1365A>G (p.Gln455=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2953002	NM_001378615.1(CC2D2A):c.438+20C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2952991	NM_001378615.1(CC2D2A):c.337-18T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign

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