13760[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 2440664	NM_001037333.3(CYFIP2):c.8C>T (p.Thr3Met)	CYFIP2 (T3M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2832693	NM_001037333.3(CYFIP2):c.9G>T (p.Thr3=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596751	NM_001037333.3(CYFIP2):c.9G>A (p.Thr3=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653409	NM_001037333.3(CYFIP2):c.12C>T (p.His4=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110786	NM_001037333.3(CYFIP2):c.13G>A (p.Val5Ile)	CYFIP2 (V5I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3011684	NM_001037333.3(CYFIP2):c.19C>T (p.Leu7=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585831	NM_001037333.3(CYFIP2):c.30C>T (p.Ala10=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617555	NM_001037333.3(CYFIP2):c.39C>T (p.Asn13=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988444	NM_001037333.3(CYFIP2):c.42G>T (p.Val14=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530032	NM_001037333.3(CYFIP2):c.48G>C (p.Leu16=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340477	NM_001037333.3(CYFIP2):c.57G>C (p.Glu19Asp)	CYFIP2 (E19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1658818	NM_001037333.3(CYFIP2):c.69C>T (p.Pro23=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614285	NM_001037333.3(CYFIP2):c.69C>G (p.Pro23=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119386	NM_001037333.3(CYFIP2):c.70G>A (p.Asp24Asn)	CYFIP2 (D24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599679	NM_001037333.3(CYFIP2):c.81A>G (p.Pro27=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1714626	NM_001037333.3(CYFIP2):c.91C>T (p.Pro31Ser)	CYFIP2 (P31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993893	NM_001037333.3(CYFIP2):c.106A>G (p.Ile36Val)	CYFIP2 (I36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136240	NM_001037333.3(CYFIP2):c.109A>G (p.Met37Val)	CYFIP2 (M37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994973	NM_001037333.3(CYFIP2):c.111G>A (p.Met37Ile)	CYFIP2 (M37I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565679	NM_001037333.3(CYFIP2):c.117+4A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864749	NM_001037333.3(CYFIP2):c.117+9A>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028387	NM_001037333.3(CYFIP2):c.117+9A>C	CYFIP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1666299	NM_001037333.3(CYFIP2):c.117+12G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759510	NM_001037333.3(CYFIP2):c.117+13G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850738	NM_001037333.3(CYFIP2):c.117+15A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112153	NM_001037333.3(CYFIP2):c.117+19A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1645263	NM_001037333.3(CYFIP2):c.118-20C>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518139	NM_001037333.3(CYFIP2):c.118-3C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2257413	NM_001037333.3(CYFIP2):c.121A>G (p.Asn41Asp)	CYFIP2 (N41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2780793	NM_001037333.3(CYFIP2):c.153A>G (p.Ala51=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081396	NM_001037333.3(CYFIP2):c.171A>G (p.Ala57=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808838	NM_001037333.3(CYFIP2):c.174G>A (p.Arg58=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499907	NM_001037333.3(CYFIP2):c.181G>A (p.Glu61Lys)	CYFIP2 (E61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752281	NM_001037333.3(CYFIP2):c.201C>T (p.Ser67=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601759	NM_001037333.3(CYFIP2):c.204C>T (p.Ser68=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1655457	NM_001037333.3(CYFIP2):c.207+16C>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638129	NM_001037333.3(CYFIP2):c.207+17C>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629343	NM_001037333.3(CYFIP2):c.207+19C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601203	NM_001037333.3(CYFIP2):c.207+20G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674146	NM_001037333.3(CYFIP2):c.208-7A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792671	NM_001037333.3(CYFIP2):c.217C>T (p.Leu73=)	CYFIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2577746	NM_001037333.3(CYFIP2):c.217C>G (p.Leu73Val)	CYFIP2 (L73V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1351349	NM_001037333.3(CYFIP2):c.224A>C (p.Glu75Ala)	CYFIP2 (E75A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1665292	NM_001037333.3(CYFIP2):c.229C>T (p.His77Tyr)	CYFIP2 (H77Y)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1497484	NM_001037333.3(CYFIP2):c.233A>G (p.Glu78Gly)	CYFIP2 (E78G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2835009	NM_001037333.3(CYFIP2):c.240G>T (p.Ala80=)	CYFIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1539411	NM_001037333.3(CYFIP2):c.240G>A (p.Ala80=)	CYFIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2825120	NM_001037333.3(CYFIP2):c.244A>G (p.Met82Val)	CYFIP2 (M82V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1529674	NM_001037333.3(CYFIP2):c.249G>A (p.Leu83=)	CYFIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 802171	NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)	CYFIP2 (R87S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 65	GLikely pathogenic
Select item 430807	NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	CYFIP2 (R87C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 65 +3 more	GPathogenic/Likely pathogenic
Select item 545429	NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro)	CYFIP2 (R87P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 65 +1 more	GPathogenic/Likely pathogenic
Select item 545427	NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu)	CYFIP2 (R87L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 65	GLikely pathogenic
Select item 2755888	NM_001037333.3(CYFIP2):c.261C>T (p.Arg87=)	CYFIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1255441	NM_001037333.3(CYFIP2):c.283dup (p.Gln95fs)	CYFIP2 (Q95fs)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 65 +1 more	GBenign
Select item 1905550	NM_001037333.3(CYFIP2):c.285+5_285+6del	CYFIP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2150419	NM_001037333.3(CYFIP2):c.285+5G>C	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2123323	NM_001037333.3(CYFIP2):c.285+10T>C	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2981572	NM_001037333.3(CYFIP2):c.285+17_285+19del	CYFIP2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1634657	NM_001037333.3(CYFIP2):c.285+16T>C	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692730	NM_001037333.3(CYFIP2):c.286-18C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640233	NM_001037333.3(CYFIP2):c.286-14A>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435319	NM_001037333.3(CYFIP2):c.286-13T>C	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008619	NM_001037333.3(CYFIP2):c.286-10del	CYFIP2	Deletion (intron variant)	not provided	GLikely benign
Select item 3007355	NM_001037333.3(CYFIP2):c.286-9C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993202	NM_001037333.3(CYFIP2):c.286-9C>G	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1170929	NM_001037333.3(CYFIP2):c.286-6C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2754206	NM_001037333.3(CYFIP2):c.292T>C (p.Cys98Arg)	CYFIP2 (C98R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494821	NM_001037333.3(CYFIP2):c.294C>T (p.Cys98=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1551183	NM_001037333.3(CYFIP2):c.297C>T (p.Asn99=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1719503	NM_001037333.3(CYFIP2):c.300G>T (p.Glu100Asp)	CYFIP2 (E100D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851825	NM_001037333.3(CYFIP2):c.310C>T (p.Arg104Ter)	CYFIP2 (R104* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 973753	NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)	CYFIP2 (Y108H +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 1560848	NM_001037333.3(CYFIP2):c.324T>C (p.Tyr108=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174875	NM_001037333.3(CYFIP2):c.342G>T (p.Val114=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995740	NM_001037333.3(CYFIP2):c.344T>C (p.Leu115Pro)	CYFIP2 (L89P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982330	NM_001037333.3(CYFIP2):c.349C>T (p.Pro117Ser)	CYFIP2 (P117S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2756306	NM_001037333.3(CYFIP2):c.350C>A (p.Pro117Gln)	CYFIP2 (P91Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658344	NM_001037333.3(CYFIP2):c.350C>T (p.Pro117Leu)	CYFIP2 (P117L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2428421	NM_001037333.3(CYFIP2):c.351G>A (p.Pro117=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625648	NM_001037333.3(CYFIP2):c.360C>T (p.Thr120=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571994	NM_001037333.3(CYFIP2):c.362A>G (p.Lys121Arg)	CYFIP2 (K121R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491920	NM_001037333.3(CYFIP2):c.367A>G (p.Met123Val)	CYFIP2 (M123V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391258	NM_001037333.3(CYFIP2):c.370A>C (p.Lys124Gln)	CYFIP2 (K98Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2792166	NM_001037333.3(CYFIP2):c.376A>G (p.Met126Val)	CYFIP2 (M100V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440826	NM_001037333.3(CYFIP2):c.387+5G>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2751552	NM_001037333.3(CYFIP2):c.387+7G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112538	NM_001037333.3(CYFIP2):c.387+12G>A	CYFIP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1607161	NM_001037333.3(CYFIP2):c.388-12del	CYFIP2	Deletion (intron variant)	not provided	GBenign
Select item 1532682	NM_001037333.3(CYFIP2):c.388-15C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601195	NM_001037333.3(CYFIP2):c.388-10C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3015497	NM_001037333.3(CYFIP2):c.388-5C>T	CYFIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169453	NM_001037333.3(CYFIP2):c.399C>T (p.Ile133=)	CYFIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1462631	NM_001037333.3(CYFIP2):c.403C>T (p.Arg135Trp)	CYFIP2 (R135W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119622	NM_001037333.3(CYFIP2):c.404G>A (p.Arg135Gln)	CYFIP2 (R109Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772374	NM_001037333.3(CYFIP2):c.412A>T (p.Ser138Cys)	CYFIP2 (S112C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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