6506[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	LINC02726, LINC02742 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	ABTB2, ANO3 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
Select item 59413	GRCh38/hg38 11p13-12(chr11:35103218-38791492)x1	CD44, CD44-AS1 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57374	GRCh38/hg38 11p13-12(chr11:35135480-37649168)x1	CD44, CD44-AS1 +56 more	Copy number loss	See cases	GUncertain significance
Select item 3364691	NM_004171.4(SLC1A2):c.1724A>T (p.Ter575Leu)	SLC1A2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2919841	NM_004171.4(SLC1A2):c.1719G>A (p.Glu573=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179652	NM_004171.4(SLC1A2):c.1716T>C (p.Arg572=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157513	NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)	SLC1A2 (R563H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41 +1 more	GConflicting classifications of pathogenicity
Select item 1439675	NM_004171.4(SLC1A2):c.1714C>T (p.Arg572Cys)	SLC1A2 (R572C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1307851	NM_004171.4(SLC1A2):c.1709G>C (p.Trp570Ser)	SLC1A2 (W561S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094842	NM_004171.4(SLC1A2):c.1707T>A (p.Pro569=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3654360	NM_004171.4(SLC1A2):c.1705C>T (p.Pro569Ser)	SLC1A2 (P569S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3727747	NM_004171.4(SLC1A2):c.1702G>T (p.Glu568Ter)	SLC1A2 (E559* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2153348	NM_004171.4(SLC1A2):c.1701A>G (p.Glu567=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129360	NM_004171.4(SLC1A2):c.1699G>A (p.Glu567Lys)	SLC1A2 (E558K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771955	NM_004171.4(SLC1A2):c.1698G>A (p.Glu566=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3602446	NM_004171.4(SLC1A2):c.1697A>G (p.Glu566Gly)	SLC1A2 (E557G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077762	NM_004171.4(SLC1A2):c.1694T>C (p.Val565Ala)	SLC1A2 (V556A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1916692	NM_004171.4(SLC1A2):c.1693G>A (p.Val565Ile)	SLC1A2 (V556I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362190	NM_004171.4(SLC1A2):c.1687T>A (p.Cys563Ser)	SLC1A2 (C554S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2144833	NM_004171.4(SLC1A2):c.1684G>A (p.Asp562Asn)	SLC1A2 (D562N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41 +1 more	GConflicting classifications of pathogenicity
Select item 2021547	NM_004171.4(SLC1A2):c.1683C>T (p.Ala561=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200780	NM_004171.4(SLC1A2):c.1680A>G (p.Ser560=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089684	NM_004171.4(SLC1A2):c.1678T>C (p.Ser560Pro)	SLC1A2 (S551P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3621188	NM_004171.4(SLC1A2):c.1675A>C (p.Lys559Gln)	SLC1A2 (K550Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564523	NM_004171.4(SLC1A2):c.1671T>C (p.Asn557=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640771	NM_004171.4(SLC1A2):c.1670A>G (p.Asn557Ser)	SLC1A2 (N548S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1094063	NM_004171.4(SLC1A2):c.1659T>G (p.Thr553=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637788	NM_004171.4(SLC1A2):c.1656A>G (p.Val552=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945400	NM_004171.4(SLC1A2):c.1654-18G>A	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641721	NM_004171.4(SLC1A2):c.1653+24C>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113309	NM_004171.4(SLC1A2):c.1653+16A>G	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037671	NM_004171.4(SLC1A2):c.1653+9C>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958020	NM_004171.4(SLC1A2):c.1653+5A>G	SLC1A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2189663	NM_004171.4(SLC1A2):c.1648T>C (p.Cys550Arg)	SLC1A2 (C541R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806646	NM_004171.4(SLC1A2):c.1644T>C (p.Asp548=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1466550	NM_004171.4(SLC1A2):c.1643A>T (p.Asp548Val)	SLC1A2 (D539V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742439	NM_004171.4(SLC1A2):c.1640T>C (p.Val547Ala)	SLC1A2 (V538A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435979	NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)	SLC1A2 (V538I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GUncertain significance
Select item 1582406	NM_004171.4(SLC1A2):c.1638A>T (p.Ile546=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2001898	NM_004171.4(SLC1A2):c.1634T>C (p.Val545Ala)	SLC1A2 (V536A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1656839	NM_004171.4(SLC1A2):c.1634T>A (p.Val545Asp)	SLC1A2 (V536D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2143512	NM_004171.4(SLC1A2):c.1626C>A (p.His542Gln)	SLC1A2 (H542Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504085	NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)	SLC1A2 (H533R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GLikely pathogenic
Select item 1049735	NM_004171.4(SLC1A2):c.1622C>G (p.Ala541Gly)	SLC1A2 (A532G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1674471	NM_004171.4(SLC1A2):c.1616A>G (p.Tyr539Cys)	SLC1A2 (Y530C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2907794	NM_004171.4(SLC1A2):c.1612G>A (p.Val538Ile)	SLC1A2 (V529I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012612	NM_004171.4(SLC1A2):c.1610G>A (p.Cys537Tyr)	SLC1A2 (C528Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1352570	NM_004171.4(SLC1A2):c.1610G>C (p.Cys537Ser)	SLC1A2 (C528S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2689999	NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)	SLC1A2 (S525Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GUncertain significance
Select item 2742873	NM_004171.4(SLC1A2):c.1600T>C (p.Ser534Pro)	SLC1A2 (S534P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636197	NM_004171.4(SLC1A2):c.1599C>T (p.Asn533=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3342949	NM_004171.4(SLC1A2):c.1588A>G (p.Arg530Gly)	SLC1A2 (R521G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047922	NM_004171.4(SLC1A2):c.1583A>G (p.Asn528Ser)	SLC1A2 (N528S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2919452	NM_004171.4(SLC1A2):c.1574A>C (p.Asp525Ala)	SLC1A2 (D525A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3704781	NM_004171.4(SLC1A2):c.1569T>C (p.Tyr523=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885696	NM_004171.4(SLC1A2):c.1565T>C (p.Ile522Thr)	SLC1A2 (I513T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418875	NM_004171.4(SLC1A2):c.1564A>G (p.Ile522Val)	SLC1A2 (I513V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2909988	NM_004171.4(SLC1A2):c.1550C>G (p.Thr517Ser)	SLC1A2 (T517S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165799	NM_004171.4(SLC1A2):c.1549A>G (p.Thr517Ala)	SLC1A2 (T517A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3654821	NM_004171.4(SLC1A2):c.1543G>A (p.Glu515Lys)	SLC1A2 (E515K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373953	NM_004171.4(SLC1A2):c.1541T>C (p.Ile514Thr)	SLC1A2 (I505T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1984920	NM_004171.4(SLC1A2):c.1538A>G (p.Asp513Gly)	SLC1A2 (D513G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1963812	NM_004171.4(SLC1A2):c.1533T>G (p.His511Gln)	SLC1A2 (H511Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2041312	NM_004171.4(SLC1A2):c.1526G>A (p.Arg509Gln)	SLC1A2 (R500Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827756	NM_004171.4(SLC1A2):c.1523A>G (p.His508Arg)	SLC1A2 (H508R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158766	NM_004171.4(SLC1A2):c.1519C>G (p.Gln507Glu)	SLC1A2 (Q498E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090426	NM_004171.4(SLC1A2):c.1519C>A (p.Gln507Lys)	SLC1A2 (Q498K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389237	NM_004171.4(SLC1A2):c.1511T>C (p.Ile504Thr)	SLC1A2 (I495T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3663985	NM_004171.4(SLC1A2):c.1510A>C (p.Ile504Leu)	SLC1A2 (I495L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769048	NM_004171.4(SLC1A2):c.1510A>G (p.Ile504Val)	SLC1A2 (I504V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883074	NM_004171.4(SLC1A2):c.1507A>G (p.Thr503Ala)	SLC1A2 (T503A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410019	NM_004171.4(SLC1A2):c.1506T>A (p.Asp502Glu)	SLC1A2 (D493E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440626	NM_004171.4(SLC1A2):c.1505A>G (p.Asp502Gly)	SLC1A2 (D502G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450020	NM_004171.4(SLC1A2):c.1496C>A (p.Ser499Tyr)	SLC1A2 (S490Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362763	NM_004171.4(SLC1A2):c.1493A>G (p.Lys498Arg)	SLC1A2 (K489R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GLikely benign
Select item 2900409	NM_004171.4(SLC1A2):c.1493A>C (p.Lys498Thr)	SLC1A2 (K498T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1417326	NM_004171.4(SLC1A2):c.1483C>T (p.His495Tyr)	SLC1A2 (H495Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553690	NM_004171.4(SLC1A2):c.1482T>C (p.Tyr494=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141299	NM_004171.4(SLC1A2):c.1481A>G (p.Tyr494Cys)	SLC1A2 (Y485C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324581	NM_004171.4(SLC1A2):c.1480T>C (p.Tyr494His)	SLC1A2 (Y485H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723226	NM_004171.4(SLC1A2):c.1476A>T (p.Ile492=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2822725	NM_004171.4(SLC1A2):c.1473G>T (p.Gly491=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524999	NM_004171.4(SLC1A2):c.1468G>A (p.Ala490Thr)	SLC1A2 (A481T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545889	NM_004171.4(SLC1A2):c.1461T>A (p.Ser487=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765033	NM_004171.4(SLC1A2):c.1458C>T (p.Asp486=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3682671	NM_004171.4(SLC1A2):c.1446T>C (p.Asn482=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836528	NM_004171.4(SLC1A2):c.1440A>G (p.Ser480=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817610	NM_004171.4(SLC1A2):c.1431G>A (p.Met477Ile)	SLC1A2 (M468I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3036260	NM_004171.4(SLC1A2):c.1422-3C>T	SLC1A2	Single nucleotide variant (intron variant)	SLC1A2-related disorder	GLikely benign
Select item 996296	NM_004171.4(SLC1A2):c.1422-6C>G	SLC1A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3036982	NM_004171.4(SLC1A2):c.1422-10_1422-9insCC	SLC1A2	Insertion (intron variant)	SLC1A2-related disorder	GLikely benign
Select item 2198862	NM_004171.4(SLC1A2):c.1421+18G>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623996	NM_004171.4(SLC1A2):c.1421+13G>C	SLC1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3692362	NM_004171.4(SLC1A2):c.1405G>A (p.Ala469Thr)	SLC1A2 (A460T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645130	NM_004171.4(SLC1A2):c.1398G>C (p.Leu466=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091045	NM_004171.4(SLC1A2):c.1396C>T (p.Leu466=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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