DONSON[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 59003	GRCh38/hg38 21q22.11(chr21:33437186-33767838)x3	CRYZL1, DNAJC28 +16 more	Copy number gain	See cases	GUncertain significance
Select item 59012	GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1	CRYZL1, DNAJC28 +15 more	Copy number loss	See cases	GPathogenic
Select item 2498896	NM_017613.4(DONSON):c.*4C>T	DONSON	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2095151	NM_017613.4(DONSON):c.1674A>G (p.Arg558=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707487	NM_017613.4(DONSON):c.1671G>A (p.Leu557=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057979	NM_017613.4(DONSON):c.1670T>G (p.Leu557Arg)	DONSON (L557R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1443198	NM_017613.4(DONSON):c.1658G>A (p.Arg553Gln)	DONSON (R553Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3046432	NM_017613.4(DONSON):c.1657C>T (p.Arg553Trp)	DONSON (R553W)	Single nucleotide variant (missense variant)	DONSON-related disorder	GUncertain significance
Select item 1173054	NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu)	DONSON (P545L)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome	GPathogenic
Select item 711008	NM_017613.4(DONSON):c.1615G>A (p.Glu539Lys)	DONSON (E539K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1950758	NM_017613.4(DONSON):c.1592G>C (p.Cys531Ser)	DONSON (C531S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418455	NM_017613.4(DONSON):c.1588_1591del (p.Asn530fs)	DONSON (N530fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 771782	NM_017613.4(DONSON):c.1586C>T (p.Thr529Ile)	DONSON (T529I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1505552	NC_000021.9:g.33578432_33578446dup	DONSON	Duplication	not provided	GUncertain significance
Select item 2755407	NM_017613.4(DONSON):c.1572T>C (p.Val524=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929870	NM_017613.4(DONSON):c.1564-12A>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859829	NM_017613.4(DONSON):c.1564-18G>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638149	NM_017613.4(DONSON):c.1563+20C>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661154	NM_017613.4(DONSON):c.1563+19G>C	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3031745	NM_017613.4(DONSON):c.1563+1G>A	DONSON	Single nucleotide variant (splice donor variant)	DONSON-related disorder	GLikely pathogenic
Select item 1451531	NM_017613.4(DONSON):c.1563+1del	DONSON	Deletion (splice donor variant)	not provided	GPathogenic
Select item 587636	NM_017613.4(DONSON):c.1563+1G>T	DONSON	Single nucleotide variant (splice donor variant)	Microcephaly, short stature, and limb abnormalities +1 more	GPathogenic
Select item 2253291	NM_017613.4(DONSON):c.1562T>A (p.Met521Lys)	DONSON (M521K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1565140	NM_017613.4(DONSON):c.1546G>C (p.Asp516His)	DONSON (D516H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2970129	NM_017613.4(DONSON):c.1524A>T (p.Val508=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736985	NM_017613.4(DONSON):c.1510G>A (p.Glu504Lys)	DONSON (E504K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929479	NM_017613.4(DONSON):c.1509C>T (p.His503=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098376	NM_017613.4(DONSON):c.1487dup (p.Ser497fs)	DONSON (S497fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1503643	NM_017613.4(DONSON):c.1480G>A (p.Gly494Arg)	DONSON (G494R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340394	NM_017613.4(DONSON):c.1474_1475del (p.Gln492fs)	DONSON (Q492fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 737509	NM_017613.4(DONSON):c.1466A>G (p.Lys489Arg)	DONSON (K489R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 431445	NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	DONSON (K489T)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 431417	NM_017613.3(DONSON):c.[1466A>C;786-33A>G82A>C]	DONSON (K489T +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 2280041	NM_017613.4(DONSON):c.1456A>G (p.Met486Val)	DONSON (M486V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955419	NM_017613.4(DONSON):c.1452G>A (p.Leu484=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1520431	NM_017613.4(DONSON):c.1444C>T (p.His482Tyr)	DONSON (H482Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410377	NM_017613.4(DONSON):c.1433C>T (p.Pro478Leu)	DONSON (P478L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 718109	NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys)	DONSON (E471K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2976731	NM_017613.4(DONSON):c.1401A>G (p.Gln467=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860618	NM_017613.4(DONSON):c.1390T>C (p.Tyr464His)	DONSON (Y464H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565389	NM_017613.4(DONSON):c.1388G>T (p.Gly463Val)	DONSON (G463V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2875690	NM_017613.4(DONSON):c.1375_1376del (p.Gln459fs)	DONSON (Q459fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2862554	NM_017613.4(DONSON):c.1373C>G (p.Thr458Arg)	DONSON (T458R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727169	NM_017613.4(DONSON):c.1371G>A (p.Lys457=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1441615	NM_017613.4(DONSON):c.1367_1368del (p.Val456fs)	DONSON (V456fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2053432	NM_017613.4(DONSON):c.1355G>T (p.Arg452Leu)	DONSON (R452L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930641	NM_017613.4(DONSON):c.1354C>T (p.Arg452Trp)	DONSON (R452W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635179	NM_017613.4(DONSON):c.1351-12A>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970877	NM_017613.4(DONSON):c.1351-18_1351-16del	DONSON	Deletion (intron variant)	not provided	GLikely benign
Select item 1269498	NM_017613.4(DONSON):c.1351-140T>C	DONSON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277919	NM_017613.4(DONSON):c.1350+148_1350+151del	DONSON	Microsatellite (intron variant)	not provided	GBenign
Select item 2117557	NM_017613.4(DONSON):c.1350+15C>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187242	NM_017613.4(DONSON):c.1350+6A>T	DONSON	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2187243	NM_017613.4(DONSON):c.1350+4_1350+5insATGCAAATGC	DONSON	Insertion (intron variant)	not provided	GUncertain significance
Select item 3234865	NM_017613.4(DONSON):c.1342del (p.Met448fs)	DONSON (M448fs)	Deletion (frameshift variant)	Microcephaly, short stature, and limb abnormalities	GLikely pathogenic
Select item 2958200	NM_017613.4(DONSON):c.1341A>G (p.Gln447=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525346	NM_017613.4(DONSON):c.1340A>G (p.Gln447Arg)	DONSON (Q447R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 431415	NM_017613.4(DONSON):c.1337T>C (p.Met446Thr)	DONSON (M446T)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 2105394	NM_017613.4(DONSON):c.1324del (p.Arg442fs)	DONSON (R442fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1069880	NM_017613.4(DONSON):c.1324C>T (p.Arg442Ter)	DONSON (R442*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1937858	NM_017613.4(DONSON):c.1313_1314del (p.Pro438fs)	DONSON (P438fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3273497	NM_017613.4(DONSON):c.1310C>A (p.Ser437Tyr)	DONSON (S437Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071868	NM_017613.4(DONSON):c.1286C>A (p.Ala429Glu)	DONSON (A429E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 431419	NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	DONSON (Q428*)	Single nucleotide variant (nonsense)	Microcephaly, short stature, and limb abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 431418	NM_017613.4(DONSON):c.1251_1256del (p.Asn417_Ser418del)	DONSON	Deletion (inframe_deletion)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 521608	NM_017613.4(DONSON):c.1254dup (p.Lys419Ter)	DONSON (K419*)	Duplication (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2801729	NM_017613.4(DONSON):c.1253_1254del (p.Asn417_Ser418insTer)	DONSON	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2795514	NM_017613.4(DONSON):c.1230A>G (p.Thr410=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085212	NM_017613.4(DONSON):c.1228A>G (p.Thr410Ala)	DONSON (T410A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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