10522[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	ANO9, B4GALNT4 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2629399	NM_021008.4(DEAF1):c.*5C>T	DEAF1	Single nucleotide variant (3 prime UTR variant)	DEAF1-related disorder	GUncertain significance
Select item 1548481	NM_021008.4(DEAF1):c.1692C>T (p.Thr564=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834890	NM_021008.4(DEAF1):c.1691C>A (p.Thr564Asn)	DEAF1 (T564N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575852	NM_021008.4(DEAF1):c.1687G>A (p.Val563Met)	DEAF1 (V321M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2188386	NM_021008.4(DEAF1):c.1686G>A (p.Lys562=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538175	NM_021008.4(DEAF1):c.1683G>A (p.Glu561=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347214	NM_021008.4(DEAF1):c.1680G>A (p.Met560Ile)	DEAF1 (M318I +2 more)	Single nucleotide variant (missense variant)	DEAF1-related disorder	GUncertain significance
Select item 707114	NM_021008.4(DEAF1):c.1680G>C (p.Met560Ile)	DEAF1 (M318I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1434633	NM_021008.4(DEAF1):c.1675G>A (p.Val559Met)	DEAF1 (V317M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1632307	NM_021008.4(DEAF1):c.1674C>T (p.Ser558=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628459	NM_021008.4(DEAF1):c.1665G>A (p.Val555=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913006	NM_021008.4(DEAF1):c.1663G>A (p.Val555Met)	DEAF1 (V313M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899989	NM_021008.4(DEAF1):c.1662C>T (p.His554=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474418	NM_021008.4(DEAF1):c.1660C>T (p.His554Tyr)	DEAF1 (H554Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2828922	NM_021008.4(DEAF1):c.1657dup (p.Val553fs)	DEAF1 (V553fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1375462	NM_021008.4(DEAF1):c.1654G>A (p.Glu552Lys)	DEAF1 (E310K +2 more)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 2135632	NM_021008.4(DEAF1):c.1653C>G (p.Asp551Glu)	DEAF1 (D309E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637599	NM_021008.4(DEAF1):c.1653C>T (p.Asp551=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493084	NM_021008.4(DEAF1):c.1652A>G (p.Asp551Gly)	DEAF1 (D551G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509227	NM_021008.4(DEAF1):c.1648G>A (p.Ala550Thr)	DEAF1 (A308T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071328	NM_021008.4(DEAF1):c.1645C>T (p.Gln549Ter)	DEAF1 (Q474* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1370947	NM_021008.4(DEAF1):c.1643T>A (p.Val548Asp)	DEAF1 (V306D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440733	NM_021008.4(DEAF1):c.1642G>C (p.Val548Leu)	DEAF1 (V306L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056781	NM_021008.4(DEAF1):c.1642G>A (p.Val548Ile)	DEAF1 (V548I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2740108	NM_021008.4(DEAF1):c.1641C>T (p.Thr547=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553038	NM_021008.4(DEAF1):c.1641C>A (p.Thr547=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414232	NM_021008.4(DEAF1):c.1641del (p.Val548fs)	DEAF1 (V548fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1089738	NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser)	DEAF1 (T305S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 434924	NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly)	DEAF1 (A545G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2061358	NM_021008.4(DEAF1):c.1627T>G (p.Ser543Ala)	DEAF1 (S468A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585775	NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser)	DEAF1 (G541S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1565685	NM_021008.4(DEAF1):c.1620C>T (p.Cys540=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 915954	NM_021008.4(DEAF1):c.1617dup (p.Cys540fs)	DEAF1 (C540fs +2 more)	Duplication (frameshift variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GPathogenic
Select item 2808212	NM_021008.4(DEAF1):c.1616T>C (p.Ile539Thr)	DEAF1 (I464T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939162	NM_021008.4(DEAF1):c.1615A>G (p.Ile539Val)	DEAF1 (I297V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916537	NM_021008.4(DEAF1):c.1611G>C (p.Gln537His)	DEAF1 (Q295H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489347	NM_021008.4(DEAF1):c.1609C>T (p.Gln537Ter)	DEAF1 (Q537* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2094341	NM_021008.4(DEAF1):c.1603G>T (p.Asp535Tyr)	DEAF1 (D293Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899771	NM_021008.4(DEAF1):c.1596C>G (p.Asp532Glu)	DEAF1 (D290E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827821	NM_021008.4(DEAF1):c.1594-3C>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1916289	NM_021008.4(DEAF1):c.1594-6_1594-3del	DEAF1	Deletion (intron variant)	not provided	GLikely benign
Select item 2778893	NM_021008.4(DEAF1):c.1594-4C>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2000435	NM_021008.4(DEAF1):c.1594-7C>A	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890701	NM_021008.4(DEAF1):c.1594-11C>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818011	NM_021008.4(DEAF1):c.1594-19G>A	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1361498	NM_021008.4(DEAF1):c.1594-20G>A	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063521	NM_021008.4(DEAF1):c.1593+19_1593+20delinsTA	DEAF1	Indel (intron variant)	not provided	GUncertain significance
Select item 1904937	NM_021008.4(DEAF1):c.1593+18C>G	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536258	NM_021008.4(DEAF1):c.1593+11C>G	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183050	NM_021008.4(DEAF1):c.1593+9C>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901883	NM_021008.4(DEAF1):c.1593+8del	DEAF1	Deletion (intron variant)	not provided	GLikely benign
Select item 2784593	NM_021008.4(DEAF1):c.1593+5G>A	DEAF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2120499	NM_021008.4(DEAF1):c.1593+5G>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2172337	NM_021008.4(DEAF1):c.1593+3A>C	DEAF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2156482	NM_021008.4(DEAF1):c.1589G>A (p.Arg530His)	DEAF1 (R455H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386361	NM_021008.4(DEAF1):c.1587_1588inv (p.Arg530Cys)	DEAF1 (R530C +2 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 420360	NM_021008.4(DEAF1):c.1588C>T (p.Arg530Cys)	DEAF1 (R530C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585774	NM_021008.4(DEAF1):c.1587A>G (p.Gln529=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 422007	NM_021008.4(DEAF1):c.1580_1582del (p.Phe527del)	DEAF1 (F527del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 930896	NM_021008.4(DEAF1):c.1577C>T (p.Thr526Ile)	DEAF1 (T526I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability-epilepsy-extrapyramidal syndrome	GUncertain significance
Select item 2759231	NM_021008.4(DEAF1):c.1574C>T (p.Ser525Phe)	DEAF1 (S450F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176890	NM_021008.4(DEAF1):c.1573T>A (p.Ser525Thr)	DEAF1 (S283T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114228	NM_021008.4(DEAF1):c.1572C>T (p.Cys524=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438502	NM_021008.4(DEAF1):c.1572C>G (p.Cys524Trp)	DEAF1 (C449W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785558	NM_021008.4(DEAF1):c.1565A>G (p.Asn522Ser)	DEAF1 (N522S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810607	NM_021008.4(DEAF1):c.1563C>T (p.Val521=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772084	NM_021008.4(DEAF1):c.1548C>T (p.Thr516=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2861053	NM_021008.4(DEAF1):c.1538_1546del (p.Ser513_Cys515del)	DEAF1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 377282	NM_021008.4(DEAF1):c.1544G>A (p.Cys515Tyr)	DEAF1 (C515Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387191	NM_021008.4(DEAF1):c.1540G>A (p.Glu514Lys)	DEAF1 (E439K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384190	NM_021008.4(DEAF1):c.1539C>T (p.Ser513=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2672186	NM_021008.4(DEAF1):c.1536G>C (p.Met512Ile)	DEAF1 (M270I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 2040510	NM_021008.4(DEAF1):c.1534A>G (p.Met512Val)	DEAF1 (M512V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312911	NM_021008.4(DEAF1):c.1530G>C (p.Glu510Asp)	DEAF1 (E268D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161743	NM_021008.4(DEAF1):c.1526G>A (p.Arg509Gln)	DEAF1 (R509Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1395527	NM_021008.4(DEAF1):c.1525C>T (p.Arg509Trp)	DEAF1 (R267W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1434290	NM_021008.4(DEAF1):c.1523G>A (p.Gly508Asp)	DEAF1 (G266D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314630	NM_021008.4(DEAF1):c.1523G>T (p.Gly508Val)	DEAF1 (G266V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140929	NM_021008.4(DEAF1):c.1522G>A (p.Gly508Ser)	DEAF1 (G433S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634950	NM_021008.4(DEAF1):c.1521C>T (p.Cys507=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617748	NM_021008.4(DEAF1):c.1518C>T (p.Asn506=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585773	NM_021008.4(DEAF1):c.1512C>T (p.Cys504=)	DEAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2827456	NM_021008.4(DEAF1):c.1504C>A (p.Gln502Lys)	DEAF1 (Q260K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996832	NM_021008.4(DEAF1):c.1504-3C>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 772117	NM_021008.4(DEAF1):c.1504-4G>A	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2200056	NM_021008.4(DEAF1):c.1504-7_1504-5del	DEAF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1620427	NM_021008.4(DEAF1):c.1504-8T>C	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026116	NM_021008.4(DEAF1):c.1504-9T>C	DEAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185384	NM_021008.4(DEAF1):c.1504-40C>T	DEAF1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign
Select item 585770	NM_021008.4(DEAF1):c.1504-460C>T	DEAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185385	NM_021008.4(DEAF1):c.1503+82C>A	DEAF1, LOC126861109	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 24 +2 more	GBenign

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