4076[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 3038829	NM_000807.4(GABRA2):c.*2T>A	GABRA2	Single nucleotide variant (3 prime UTR variant)	GABRA2-related disorder	GBenign
Select item 1349771	NM_000807.4(GABRA2):c.1346T>C (p.Val449Ala)	GABRA2 (V394A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2014372	NM_000807.4(GABRA2):c.1344G>A (p.Gly448=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006181	NM_000807.4(GABRA2):c.1334C>A (p.Pro445His)	GABRA2 (P390H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699849	NM_000807.4(GABRA2):c.1333C>T (p.Pro445Ser)	GABRA2 (P390S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717125	NM_000807.4(GABRA2):c.1331A>T (p.Glu444Val)	GABRA2 (E389V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705902	NM_000807.4(GABRA2):c.1328G>A (p.Arg443Lys)	GABRA2 (R388K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978712	NM_000807.4(GABRA2):c.1323A>G (p.Leu441=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810455	NM_000807.4(GABRA2):c.1297A>G (p.Asn433Asp)	GABRA2 (N378D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1658932	NM_000807.4(GABRA2):c.1293C>T (p.Thr431=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764264	NM_000807.4(GABRA2):c.1269A>G (p.Ile423Met)	GABRA2 (I423M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001728	NM_000807.4(GABRA2):c.1259T>C (p.Met420Thr)	GABRA2 (M365T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189131	NM_000807.4(GABRA2):c.1242T>C (p.Val414=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098769	NM_000807.4(GABRA2):c.1241T>C (p.Val414Ala)	GABRA2 (V359A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2804662	NM_000807.4(GABRA2):c.1221A>T (p.Ala407=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515954	NM_000807.4(GABRA2):c.1220C>A (p.Ala407Glu)	GABRA2 (A352E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 432686	NM_000807.4(GABRA2):c.1219_1220delinsAA (p.Ala407Lys)	GABRA2 (A407K +3 more)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2630020	NM_000807.4(GABRA2):c.1214C>T (p.Ala405Val)	GABRA2 (A350V +3 more)	Single nucleotide variant (missense variant)	GABRA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2105415	NM_000807.4(GABRA2):c.1210C>A (p.Pro404Thr)	GABRA2 (P404T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717090	NM_000807.4(GABRA2):c.1208A>T (p.Lys403Met)	GABRA2 (K348M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008936	NM_000807.4(GABRA2):c.1206C>G (p.Asn402Lys)	GABRA2 (N462K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905703	NM_000807.4(GABRA2):c.1202A>T (p.Glu401Val)	GABRA2 (E401V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551406	NM_000807.4(GABRA2):c.1195A>C (p.Lys399Gln)	GABRA2 (K459Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2419826	NM_000807.4(GABRA2):c.1194G>A (p.Lys398=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114978	NM_000807.4(GABRA2):c.1194G>T (p.Lys398Asn)	GABRA2 (K458N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967670	NM_000807.4(GABRA2):c.1191C>T (p.Asn397=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467456	NM_000807.4(GABRA2):c.1180C>T (p.Pro394Ser)	GABRA2 (P339S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2417485	NM_000807.4(GABRA2):c.1179G>A (p.Thr393=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184714	NM_000807.4(GABRA2):c.1178C>T (p.Thr393Met)	GABRA2 (T338M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2432000	NM_000807.4(GABRA2):c.1174A>G (p.Thr392Ala)	GABRA2 (T337A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2844152	NM_000807.4(GABRA2):c.1169G>C (p.Ser390Thr)	GABRA2 (S390T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994640	NM_000807.4(GABRA2):c.1167G>C (p.Lys389Asn)	GABRA2 (K334N +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2575971	NM_000807.4(GABRA2):c.1162T>G (p.Ser388Ala)	GABRA2 (S333A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846042	NM_000807.4(GABRA2):c.1158C>A (p.Thr386=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142575	NM_000807.4(GABRA2):c.1152C>T (p.Leu384=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751071	NM_000807.4(GABRA2):c.1147G>C (p.Val383Leu)	GABRA2 (V328L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1615168	NM_000807.4(GABRA2):c.1146A>G (p.Pro382=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995889	NM_000807.4(GABRA2):c.1143T>A (p.Asp381Glu)	GABRA2 (D326E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2610077	NM_000807.4(GABRA2):c.1142A>T (p.Asp381Val)	GABRA2 (D386V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970913	NM_000807.4(GABRA2):c.1131T>A (p.Asn377Lys)	GABRA2 (N322K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009901	NM_000807.4(GABRA2):c.1128G>C (p.Pro376=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919218	NM_000807.4(GABRA2):c.1128G>A (p.Pro376=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431997	NM_000807.4(GABRA2):c.1118A>G (p.Asn373Ser)	GABRA2 (N318S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GUncertain significance
Select item 2709815	NM_000807.4(GABRA2):c.1113T>C (p.Val371=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786581	NM_000807.4(GABRA2):c.1110T>A (p.Ala370=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786153	NM_000807.4(GABRA2):c.1110T>C (p.Ala370=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082786	NM_000807.4(GABRA2):c.1095C>T (p.Asn365=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348187	NM_000807.4(GABRA2):c.1088A>G (p.Gln363Arg)	GABRA2 (Q308R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355537	NM_000807.4(GABRA2):c.1086A>G (p.Ile362Met)	GABRA2 (I422M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754087	NM_000807.4(GABRA2):c.1078G>A (p.Val360Ile)	GABRA2 (V365I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2189132	NM_000807.4(GABRA2):c.1077C>T (p.Ser359=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2293781	NM_000807.4(GABRA2):c.1072G>C (p.Ala358Pro)	GABRA2 (A418P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537024	NM_000807.4(GABRA2):c.1067A>C (p.Glu356Ala)	GABRA2 (E356A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1898082	NM_000807.4(GABRA2):c.1062A>G (p.Lys354=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672990	NM_000807.4(GABRA2):c.1060A>G (p.Lys354Glu)	GABRA2 (K299E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784171	NM_000807.4(GABRA2):c.1060-4A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2023013	NM_000807.4(GABRA2):c.1060-11T>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815269	NM_000807.4(GABRA2):c.1060-5572A>C	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023436	NM_000807.4(GABRA2):c.1060-5574T>C	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787518	NM_000807.4(GABRA2):c.1060-5580C>T	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1376536	NM_000807.4(GABRA2):c.1060-5595C>T	GABRA2 (S412F +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2039011	NM_000807.4(GABRA2):c.1060-5599C>T	GABRA2 (Q411* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2181414	NM_000807.4(GABRA2):c.1060-5614T>C	GABRA2 (C406R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1721390	NM_000807.4(GABRA2):c.1060-5615C>G	GABRA2 (D350E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2872566	NM_000807.4(GABRA2):c.1060-5627G>A	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2806112	NM_000807.4(GABRA2):c.1060-5633C>A	GABRA2 (Y344* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1903362	NM_000807.4(GABRA2):c.1060-5637A>G	GABRA2 (E343G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2414234	NM_000807.4(GABRA2):c.1060-5643C>T	GABRA2 (T341I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2837386	NM_000807.4(GABRA2):c.1060-5652A>G	GABRA2 (Q338R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973424	NM_000807.4(GABRA2):c.1060-5659_1060-5658insC	GABRA2 (L391fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1973425	NM_000807.4(GABRA2):c.1060-5659T>C	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1620537	NM_000807.4(GABRA2):c.1059+5659C>T	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1614601	NM_000807.4(GABRA2):c.1059+5658C>T	GABRA2 (P334L +1 more)	Single nucleotide variant (missense variant +1 more)	GABRA2-related disorder +1 more	GLikely benign
Select item 2745758	NM_000807.4(GABRA2):c.1059+5657C>G	GABRA2 (P334A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967247	NM_000807.4(GABRA2):c.1059+5653A>G	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762707	NM_000807.4(GABRA2):c.1059+5648T>C	GABRA2 (F331L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828539	NM_000807.4(GABRA2):c.1059+5642A>C	GABRA2 (I384L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461485	NM_000807.4(GABRA2):c.1059+5636A>G	GABRA2 (K327E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870292	NM_000807.4(GABRA2):c.1059+5631G>T	GABRA2 (W325L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779443	NM_000807.4(GABRA2):c.1059+5616G>T	GABRA2 (G320V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998048	NM_000807.4(GABRA2):c.1059+5609C>A	GABRA2 (L318I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1941633	NM_000807.4(GABRA2):c.1059+5609C>T	GABRA2 (L373F +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1587947	NM_000807.4(GABRA2):c.1059+5605A>C	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1905620	NM_000807.4(GABRA2):c.1059+5602A>G	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418268	NM_000807.4(GABRA2):c.1059+5589A>G	GABRA2 (Y311C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932201	NM_000807.4(GABRA2):c.1059+5582T>G	GABRA2 (L309V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2984626	NM_000807.4(GABRA2):c.1059+5561A>G	GABRA2 (I302V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972283	NM_000807.4(GABRA2):c.1059+5559C>T	GABRA2 (S301L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2794412	NM_000807.4(GABRA2):c.1059+5550A>G	GABRA2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3020395	NM_000807.4(GABRA2):c.1059+5541G>A	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004591	NM_000807.4(GABRA2):c.1059+5539A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913340	NM_000807.4(GABRA2):c.1059+5538G>A	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975528	NM_000807.4(GABRA2):c.1059+17G>A	GABRA2 (R359H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2801689	NM_000807.4(GABRA2):c.1059+11G>A	GABRA2 (S357N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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