7280[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 366

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 1265040	NM_004332.4(BPHL):c.*965A>C	BPHL, TUBB2A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2081636	NM_001069.3(TUBB2A):c.1333_1334insACGAGT (p.Ala445delinsAspGluSer)	TUBB2A	Insertion (inframe_indel)	not provided	GUncertain significance
Select item 1359509	NM_001069.3(TUBB2A):c.1334C>T (p.Ala445Val)	TUBB2A (A360V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700863	NM_001069.3(TUBB2A):c.1333G>C (p.Ala445Pro)	TUBB2A (A360P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967519	NM_001069.3(TUBB2A):c.1332G>A (p.Glu444=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626943	NM_001069.3(TUBB2A):c.1331A>T (p.Glu444Val)	TUBB2A (E359V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1370198	NM_001069.3(TUBB2A):c.1330G>A (p.Glu444Lys)	TUBB2A (E359K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2081638	NM_001069.3(TUBB2A):c.1328A>G (p.Asp443Gly)	TUBB2A (D443G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813520	NM_001069.3(TUBB2A):c.1324G>T (p.Glu442Ter)	TUBB2A (E357* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 382896	NM_001069.3(TUBB2A):c.1323C>T (p.Gly441=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2723300	NM_001069.3(TUBB2A):c.1310AGG[3] (p.Glu440del)	TUBB2A (E440del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1545758	NM_001069.3(TUBB2A):c.1317G>A (p.Glu439=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023062	NM_001069.3(TUBB2A):c.1314G>A (p.Glu438=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1301530	NM_001069.3(TUBB2A):c.1309G>A (p.Glu437Lys)	TUBB2A (E352K +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1652789	NM_001069.3(TUBB2A):c.1308C>T (p.Phe436=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739731	NM_001069.3(TUBB2A):c.1294G>A (p.Glu432Lys)	TUBB2A (E432K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1390679	NM_001069.3(TUBB2A):c.1294G>C (p.Glu432Gln)	TUBB2A (E347Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002885	NM_001069.3(TUBB2A):c.1291G>A (p.Asp431Asn)	TUBB2A (D431N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894972	NM_001069.3(TUBB2A):c.1290C>A (p.Ala430=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626538	NM_001069.3(TUBB2A):c.1290C>T (p.Ala430=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810141	NM_001069.3(TUBB2A):c.1289C>T (p.Ala430Val)	TUBB2A (A430V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567700	NM_001069.3(TUBB2A):c.1287G>A (p.Thr429=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412949	NM_001069.3(TUBB2A):c.1276C>T (p.Gln426Ter)	TUBB2A (Q341* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2982258	NM_001069.3(TUBB2A):c.1249G>A (p.Asp417Asn)	TUBB2A (D332N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 624121	NM_001069.3(TUBB2A):c.1247A>G (p.Asn416Ser)	TUBB2A (N416S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1722304	NM_001069.3(TUBB2A):c.1241A>G (p.Asn414Ser)	TUBB2A (N329S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372880	NM_001069.3(TUBB2A):c.1240A>C (p.Asn414His)	TUBB2A (N414H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1535595	NM_001069.3(TUBB2A):c.1239C>T (p.Ser413=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999864	NM_001069.3(TUBB2A):c.1233C>T (p.Ala411=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986830	NM_001069.3(TUBB2A):c.1228G>A (p.Glu410Lys)	TUBB2A (E325K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1531272	NM_001069.3(TUBB2A):c.1227C>T (p.Thr409=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772245	NM_001069.3(TUBB2A):c.1219G>T (p.Glu407Ter)	TUBB2A (E407* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2119367	NM_001069.3(TUBB2A):c.1215G>C (p.Glu405Asp)	TUBB2A (E320D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592791	NM_001069.3(TUBB2A):c.1212C>T (p.Asp404=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343130	NM_001069.3(TUBB2A):c.1201G>T (p.Glu401Ter)	TUBB2A (E316* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 1447917	NM_001069.3(TUBB2A):c.1200C>T (p.Gly400=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801094	NM_001069.3(TUBB2A):c.1197G>A (p.Thr399=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541050	NM_001069.3(TUBB2A):c.1197G>T (p.Thr399=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800924	NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val)	TUBB2A (A308V +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 382096	NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	TUBB2A (R391H +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5 +2 more	GConflicting classifications of pathogenicity
Select item 521900	NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys)	TUBB2A (R391C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 437124	NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)	TUBB2A (M388T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3253211	NM_001069.3(TUBB2A):c.1157C>T (p.Thr386Met)	TUBB2A (T301M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732898	NM_001069.3(TUBB2A):c.1153T>C (p.Phe385Leu)	TUBB2A (F300L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802909	NM_001069.3(TUBB2A):c.1140C>T (p.Arg380=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1203166	NM_001069.3(TUBB2A):c.1138C>T (p.Arg380Cys)	TUBB2A (R295C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104508	NM_001069.3(TUBB2A):c.1137G>A (p.Lys379=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413997	NM_001069.3(TUBB2A):c.1134C>T (p.Phe378=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446756	NM_001069.3(TUBB2A):c.1132T>A (p.Phe378Ile)	TUBB2A (F293I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1605527	NM_001069.3(TUBB2A):c.1131G>A (p.Leu377=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1591772	NM_001069.3(TUBB2A):c.1128G>A (p.Glu376=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659510	NM_001069.3(TUBB2A):c.1121T>G (p.Ile374Ser)	TUBB2A (I289S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1909819	NM_001069.3(TUBB2A):c.1116G>A (p.Thr372=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819261	NM_001069.3(TUBB2A):c.1114A>C (p.Thr372Pro)	TUBB2A (T372P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999451	NM_001069.3(TUBB2A):c.1111A>G (p.Ser371Gly)	TUBB2A (S371G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813942	NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu)	TUBB2A (F282L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GUncertain significance
Select item 2780637	NM_001069.3(TUBB2A):c.1092G>C (p.Ser364=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028113	NM_001069.3(TUBB2A):c.1088T>G (p.Met363Arg)	TUBB2A (M278R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1479053	NM_001069.3(TUBB2A):c.1088T>C (p.Met363Thr)	TUBB2A (M363T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593937	NM_001069.3(TUBB2A):c.1083G>A (p.Leu361=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267827	NM_001069.3(TUBB2A):c.1076G>A (p.Arg359His)	TUBB2A (R274H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031017	NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu)	TUBB2A (P273L +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 1065443	NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr)	TUBB2A (P273T +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GLikely pathogenic
Select item 1581224	NM_001069.3(TUBB2A):c.1071G>A (p.Pro357=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1182639	NM_001069.3(TUBB2A):c.1070C>T (p.Pro357Leu)	TUBB2A (P272L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1645062	NM_001069.3(TUBB2A):c.1063G>T (p.Asp355Tyr)	TUBB2A (D270Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2910053	NM_001069.3(TUBB2A):c.1062C>T (p.Cys354=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354853	NM_001069.3(TUBB2A):c.1057G>A (p.Val353Met)	TUBB2A (V268M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067582	NM_001069.3(TUBB2A):c.1054G>T (p.Ala352Ser)	TUBB2A (A267S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702755	NM_001069.3(TUBB2A):c.1054G>A (p.Ala352Thr)	TUBB2A (A267T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906138	NM_001069.3(TUBB2A):c.1053G>C (p.Thr351=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443591	NM_001069.3(TUBB2A):c.1052C>T (p.Thr351Met)	TUBB2A (T266M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

<< First< Prev

Page of 4