4653[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 293702	NM_000261.2(MYOC):c.*426C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293703	NM_000261.2(MYOC):c.*331A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 874097	NM_000261.2(MYOC):c.*273G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 293704	NM_000261.2(MYOC):c.*241A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293705	NM_000261.2(MYOC):c.*188C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293706	NM_000261.2(MYOC):c.*182C>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 875031	NM_000261.2(MYOC):c.*73G>C	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GBenign
Select item 293707	NM_000261.2(MYOC):c.*71G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 2500833	NM_000261.2(MYOC):c.1515A>G (p.Ter505Trp)	MYOC	Single nucleotide variant (stop lost)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686794	NM_000261.2(MYOC):c.1504T>C (p.Ser502Pro)	MYOC (S502P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1168919	NM_000261.2(MYOC):c.1499A>G (p.Lys500Arg)	MYOC (K500R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 1686793	NM_000261.2(MYOC):c.1496T>G (p.Ile499Ser)	MYOC (I499S)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686792	NM_000261.2(MYOC):c.1495A>T (p.Ile499Phe)	MYOC (I499F)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2498108	NM_000261.2(MYOC):c.1492G>C (p.Asp498His)	MYOC (D498H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 167316	NM_000261.2(MYOC):c.1491T>G (p.Tyr497Ter)	MYOC (Y497*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2442279	NM_000261.2(MYOC):c.1486A>C (p.Thr496Pro)	MYOC (T496P)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1686791	NM_000261.2(MYOC):c.1483G>A (p.Val495Ile)	MYOC (V495I)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2505293	NM_000261.2(MYOC):c.1466_1467insC (p.Trp489fs)	MYOC (W489fs)	Insertion (frameshift variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505294	NM_000261.2(MYOC):c.1466G>A (p.Trp489Ter)	MYOC (W489*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500831	NM_000261.2(MYOC):c.1464C>T (p.Ala488=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 2570621	NM_000261.2(MYOC):c.1463C>T (p.Ala488Val)	MYOC (A488V)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1810378	NM_000261.2(MYOC):c.1456C>T (p.Leu486Phe)	MYOC (L486F)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2429763	NM_000261.2(MYOC):c.1452G>A (p.Lys484=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2498107	NM_000261.2(MYOC):c.1447G>T (p.Glu483Ter)	MYOC (E483*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1686790	NM_000261.2(MYOC):c.1442C>G (p.Pro481Arg)	MYOC (P481R)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 1686789	NM_000261.2(MYOC):c.1442C>T (p.Pro481Leu)	MYOC (P481L)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1686787	NM_000261.2(MYOC):c.1441C>A (p.Pro481Thr)	MYOC (P481T)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686786	NM_000261.2(MYOC):c.1441C>T (p.Pro481Ser)	MYOC (P481S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 1686785	NM_000261.2(MYOC):c.1440C>G (p.Asn480Lys)	MYOC (N480K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7951	NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys)	MYOC (N480K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 1173106	NM_000261.2(MYOC):c.1435T>C (p.Tyr479His)	MYOC (Y479H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2500834	NM_000261.2(MYOC):c.1432G>T (p.Asp478Tyr)	MYOC (D478Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 30205	NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn)	MYOC (I477N)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7950	NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser)	MYOC (I477S)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1308204	NM_000261.2(MYOC):c.1426A>G (p.Met476Val)	MYOC (M476V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342207	NM_000261.2(MYOC):c.1412A>G (p.Tyr471Cys)	MYOC (Y471C)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 875032	NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys)	MYOC (R470C)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570620	NM_000261.2(MYOC):c.1395C>G (p.Ile465Met)	MYOC (I465M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500841	NM_000261.2(MYOC):c.1373G>A (p.Gly458Asp)	MYOC (G458D)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2575101	NM_000261.2(MYOC):c.1364C>A (p.Thr455Lys)	MYOC (T455K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1686784	NM_000261.2(MYOC):c.1357del (p.Tyr453fs)	MYOC (Y453fs)	Deletion (frameshift variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1803197	NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)	MYOC (N450S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2505295	NM_000261.2(MYOC):c.1348A>T (p.Asn450Tyr)	MYOC (N450Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1810377	NM_000261.2(MYOC):c.1348A>G (p.Asn450Asp)	MYOC (N450D)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 875033	NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)	MYOC (V449I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2500840	NM_000261.2(MYOC):c.1342A>C (p.Thr448Pro)	MYOC (T448P)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2498106	NM_000261.2(MYOC):c.1340C>T (p.Ala447Val)	MYOC (A447V)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498116	NM_000261.2(MYOC):c.1339G>A (p.Ala447Thr)	MYOC (A447T)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 631578	NM_000261.2(MYOC):c.1334C>T (p.Ala445Val)	MYOC (A445V)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 2442278	NM_000261.2(MYOC):c.1317C>G (p.Val439=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 806281	NM_000261.2(MYOC):c.1317C>T (p.Val439=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 2498115	NM_000261.2(MYOC):c.1314C>T (p.Thr438=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2429757	NM_000261.2(MYOC):c.1313C>T (p.Thr438Ile)	MYOC (T438I)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 7946	NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)	MYOC (Y437H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 2505286	NM_000261.2(MYOC):c.1302C>T (p.Gly434=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1342206	NM_000261.2(MYOC):c.1300G>A (p.Gly434Ser)	MYOC (G434S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2500839	NM_000261.2(MYOC):c.1298G>A (p.Cys433Tyr)	MYOC (C433Y)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7956	NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)	MYOC (C433R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GPathogenic FDA Recognized database
Select item 2429758	NM_000261.2(MYOC):c.1290C>T (p.Phe430=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 1698837	NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu)	MYOC (F430L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1686783	NM_000261.2(MYOC):c.1279G>A (p.Ala427Thr)	MYOC (A427T)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2500838	NM_000261.2(MYOC):c.1278C>T (p.Val426=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1686782	NM_000261.2(MYOC):c.1276G>T (p.Val426Phe)	MYOC (V426F)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 2505290	NM_000261.2(MYOC):c.1274C>G (p.Ser425Ter)	MYOC (S425*)	Single nucleotide variant (nonsense)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875954	NM_000261.2(MYOC):c.1272G>C (p.Gln424His)	MYOC (Q424H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570625	NM_000261.2(MYOC):c.1267A>C (p.Lys423Gln)	MYOC (K423Q)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7954	NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu)	MYOC (K423E)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1686797	NM_000261.2(MYOC):c.1265G>A (p.Arg422His)	MYOC (R422H)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 1686796	NM_000261.2(MYOC):c.1264C>T (p.Arg422Cys)	MYOC (R422C)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 1306862	NM_000261.2(MYOC):c.1258A>T (p.Asn420Tyr)	MYOC (N420Y)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2575096	NM_000261.2(MYOC):c.1255A>G (p.Thr419Ala)	MYOC (T419A)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2498114	NM_000261.2(MYOC):c.1240G>A (p.Glu414Lys)	MYOC (E414K)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1723166	NM_000261.2(MYOC):c.1239C>T (p.Leu413=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 1810372	NM_000261.2(MYOC):c.1209C>T (p.Leu403=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2089889	NM_000261.2(MYOC):c.1201A>C (p.Ile401Leu)	MYOC (I401L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429756	NM_000261.2(MYOC):c.1196G>A (p.Gly399Asp)	MYOC (G399D)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 7957	NM_000261.2(MYOC):c.1196G>T (p.Gly399Val)	MYOC (G399V)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 403218	NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)	MYOC (K398R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 1686795	NM_000261.2(MYOC):c.1187_1189dup (p.Glu396dup)	MYOC	Duplication (inframe_insertion)	Glaucoma of childhood	GLikely pathogenic FDA Recognized database
Select item 1342966	NM_000261.2(MYOC):c.1187_1188insCCCAGA (p.Asp395_Glu396insAspPro)	MYOC	Insertion (inframe_insertion)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 293708	NM_000261.2(MYOC):c.1188G>A (p.Glu396=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GBenign FDA Recognized database
Select item 2570619	NM_000261.2(MYOC):c.1185T>G (p.Asp395Glu)	MYOC (D395E)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2570633	NM_000261.2(MYOC):c.1183G>A (p.Asp395Asn)	MYOC (D395N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 1723165	NM_000261.2(MYOC):c.1182C>T (p.Thr394=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 1723164	NM_000261.2(MYOC):c.1179C>G (p.Ser393Arg)	MYOC (S393R)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 2442277	NM_000261.2(MYOC):c.1178G>A (p.Ser393Asn)	MYOC (S393N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 2505287	NM_000261.2(MYOC):c.1160G>A (p.Gly387Asp)	MYOC (G387D)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 625855	NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)	MYOC (E385K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2570632	NM_000261.2(MYOC):c.1151A>G (p.Asp384Gly)	MYOC (D384G)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database

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