2561[geneid] - 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 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 549597	NC_000005.10:g.160592205_161364688dup	ATP10B, GABRB2 +6 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 1217644	NM_001371727.1(GABRB2):c.*211C>T	GABRB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 639874	NC_000005.9:g.(?_160721068)_(160721455_?)dup	GABRB2	Duplication	Intellectual disability	GUncertain significance
Select item 1389252	NM_001371727.1(GABRB2):c.1531G>A (p.Val511Met)	GABRB2 (V511M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 533532	NM_001371727.1(GABRB2):c.1530T>C (p.Tyr510=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GLikely benign
Select item 2704709	NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)	GABRB2 (Y510F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1143078	NM_001371727.1(GABRB2):c.1518T>C (p.Tyr506=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 864042	NM_001371727.1(GABRB2):c.1513G>A (p.Val505Ile)	GABRB2 (V467I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2065888	NM_001371727.1(GABRB2):c.1512C>T (p.Ile504=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 838686	NM_001371727.1(GABRB2):c.1510A>G (p.Ile504Val)	GABRB2 (I504V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1117254	NM_001371727.1(GABRB2):c.1509C>T (p.Asn503=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1355499	NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile)	GABRB2 (F463I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 464937	NM_001371727.1(GABRB2):c.1479A>T (p.Ile493=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 962447	NM_001371727.1(GABRB2):c.1475G>A (p.Arg492His)	GABRB2 (R454H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2429722	NM_001371727.1(GABRB2):c.1465C>T (p.Arg489Trp)	GABRB2 (R451W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1086169	NM_001371727.1(GABRB2):c.1434C>T (p.Ile478=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1598886	NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile)	GABRB2 (T439I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 1608916	NM_001371727.1(GABRB2):c.1419A>G (p.Gln473=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1099550	NM_001371727.1(GABRB2):c.1413C>T (p.Ala471=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2074392	NM_001371727.1(GABRB2):c.1411G>T (p.Ala471Ser)	GABRB2 (A433S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 968953	NM_001371727.1(GABRB2):c.1411G>A (p.Ala471Thr)	GABRB2 (A433T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 840826	NM_001371727.1(GABRB2):c.1410C>T (p.Arg470=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3280397	NM_001371727.1(GABRB2):c.1409G>A (p.Arg470His)	GABRB2 (R470H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1565240	NM_001371727.1(GABRB2):c.1401G>A (p.Leu467=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1603916	NM_001371727.1(GABRB2):c.1399C>T (p.Leu467=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1080775	NM_001371727.1(GABRB2):c.1398C>T (p.Arg466=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1045930	NM_001371727.1(GABRB2):c.1397G>A (p.Arg466His)	GABRB2 (R428H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 1505450	NM_001371727.1(GABRB2):c.1396C>T (p.Arg466Cys)	GABRB2 (R428C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 1429218	NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His)	GABRB2 (Q462H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 1306162	NM_001371727.1(GABRB2):c.1385A>C (p.Gln462Pro)	GABRB2 (Q424P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386175	NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +2 more	GLikely benign
Select item 1315081	NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val)	GABRB2 (A423V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 643730	NM_001371727.1(GABRB2):c.1381G>T (p.Ala461Ser)	GABRB2 (A423S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3010049	NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 962908	NM_001371727.1(GABRB2):c.1378G>A (p.Val460Met)	GABRB2 (V460M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 391753	NM_001371727.1(GABRB2):c.1377T>C (p.His459=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +2 more	GLikely benign
Select item 1586215	NM_001371727.1(GABRB2):c.1374A>G (p.Arg458=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1554227	NM_001371727.1(GABRB2):c.1373G>A (p.Arg458Gln)	GABRB2 (R420Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 1311721	NM_001371727.1(GABRB2):c.1372C>T (p.Arg458Ter)	GABRB2 (R420* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1361386	NM_001371727.1(GABRB2):c.1364C>T (p.Ala455Val)	GABRB2 (A417V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1364070	NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln)	GABRB2 (R415Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 1544892	NM_001371727.1(GABRB2):c.1357C>A (p.Arg453=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 429416	NM_001371727.1(GABRB2):c.1352T>G (p.Phe451Cys)	GABRB2 (F451C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054561	NM_001371727.1(GABRB2):c.1349G>C (p.Ser450Thr)	GABRB2 (S412T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 383240	NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn)	GABRB2 (S450N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GBenign/Likely benign
Select item 1719502	NM_001371727.1(GABRB2):c.1346A>G (p.His449Arg)	GABRB2 (H411R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1647777	NM_001371727.1(GABRB2):c.1338G>A (p.Leu446=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1809618	NM_001371727.1(GABRB2):c.1334G>T (p.Gly445Val)	GABRB2 (G407V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840361	NM_001371727.1(GABRB2):c.1334G>A (p.Gly445Glu)	GABRB2 (G445E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 656109	NM_001371727.1(GABRB2):c.1325G>A (p.Arg442Gln)	GABRB2 (R404Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92 +1 more	GConflicting classifications of pathogenicity
Select item 1521442	NM_001371727.1(GABRB2):c.1324C>T (p.Arg442Trp)	GABRB2 (R404W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 668508	NM_001371727.1(GABRB2):c.1320G>A (p.Gln440=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2099527	NM_001371727.1(GABRB2):c.1317C>T (p.Ile439=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1199243	NM_001371727.1(GABRB2):c.1310C>G (p.Ser437Cys)	GABRB2 (S399C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 575255	NM_001371727.1(GABRB2):c.1310C>T (p.Ser437Phe)	GABRB2 (S437F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 380805	NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2872973	NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)	GABRB2 (D397N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2102801	NM_001371727.1(GABRB2):c.1301A>T (p.Tyr434Phe)	GABRB2 (Y396F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 1592328	NM_001371727.1(GABRB2):c.1296A>G (p.Leu432=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 3026772	NM_001371727.1(GABRB2):c.1294C>T (p.Leu432=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817333	NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)	GABRB2 (M393I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2432005	NM_001371727.1(GABRB2):c.1292T>C (p.Met431Thr)	GABRB2 (M393T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92	GUncertain significance
Select item 2096465	NM_001371727.1(GABRB2):c.1290A>C (p.Thr430=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 645525	NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn)	GABRB2 (S391N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1667174	NM_001371727.1(GABRB2):c.1280C>T (p.Pro427Leu)	GABRB2 (P389L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 2432008	NM_001371727.1(GABRB2):c.1279C>G (p.Pro427Ala)	GABRB2 (P389A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92	GUncertain significance
Select item 1313745	NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala)	GABRB2 (G387A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 1710013	NM_001371727.1(GABRB2):c.1271T>C (p.Leu424Pro)	GABRB2 (L386P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92	GUncertain significance
Select item 3063895	NM_001371727.1(GABRB2):c.1265T>C (p.Met422Thr)	GABRB2 (M384T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1115471	NM_001371727.1(GABRB2):c.1260T>G (p.Ala420=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2175003	NM_001371727.1(GABRB2):c.1257G>A (p.Glu419=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 972405	NM_001371727.1(GABRB2):c.1256A>T (p.Glu419Val)	GABRB2 (E381V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2049374	NM_001371727.1(GABRB2):c.1252T>C (p.Ser418Pro)	GABRB2 (S380P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1959936	NM_001371727.1(GABRB2):c.1249A>G (p.Thr417Ala)	GABRB2 (T379A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1014031	NM_001371727.1(GABRB2):c.1243A>G (p.Met415Val)	GABRB2 (M377V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1059234	NM_001371727.1(GABRB2):c.1231A>G (p.Ile411Val)	GABRB2 (I373V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2830564	NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)	GABRB2 (E410K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 385483	NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=)	GABRB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 678206	NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro)	GABRB2 (T408P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GBenign/Likely benign
Select item 1715409	NM_001371727.1(GABRB2):c.1217T>A (p.Leu406Gln)	GABRB2 (L368Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 796398	NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability +1 more	GBenign
Select item 1926099	NM_001371727.1(GABRB2):c.1210A>G (p.Ile404Val)	GABRB2 (I404V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 3383650	NM_001371727.1(GABRB2):c.1206G>C (p.Glu402Asp)	GABRB2 (E364D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853603	NM_001371727.1(GABRB2):c.1204G>A (p.Glu402Lys)	GABRB2 (E364K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 1106516	NM_001371727.1(GABRB2):c.1203T>C (p.His401=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 450931	NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg)	GABRB2 (H401R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1582686	NM_001371727.1(GABRB2):c.1200C>G (p.Pro400=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 1040761	NM_001371727.1(GABRB2):c.1198C>A (p.Pro400Thr)	GABRB2 (P400T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2059711	NM_001371727.1(GABRB2):c.1197C>T (p.Asp399=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 871622	NM_001371727.1(GABRB2):c.1197C>A (p.Asp399Glu)	GABRB2 (D399E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202069	NM_001371727.1(GABRB2):c.1192-3C>T	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GBenign
Select item 624117	NM_001371727.1(GABRB2):c.1192-6T>G	GABRB2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2865028	NM_001371727.1(GABRB2):c.1192-7C>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 1631824	NM_001371727.1(GABRB2):c.1192-7C>T	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign

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