DONSON[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Microcephaly-micromelia syndrome +7 more	GConflicting classifications of pathogenicity
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
Select item 3273493	NM_017613.4(DONSON):c.1201G>A (p.Val401Met)	DONSON (V401M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1502931	NM_017613.4(DONSON):c.1154G>A (p.Arg385His)	DONSON (R385H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2178224	NM_017613.4(DONSON):c.1152-3C>T	DONSON	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1262501	NM_017613.4(DONSON):c.1151+101C>T	DONSON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262004	NM_017613.4(DONSON):c.1151+87T>C	DONSON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1912088	NM_017613.4(DONSON):c.1151+12GTT[2]	DONSON	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1969173	NM_017613.4(DONSON):c.1151+18G>C	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977879	NM_017613.4(DONSON):c.1146C>G (p.Ile382Met)	DONSON (I382M)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GLikely benign
Select item 2296457	NM_017613.4(DONSON):c.1144A>G (p.Ile382Val)	DONSON (I382V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1936222	NM_017613.4(DONSON):c.1142dup (p.Ile382fs)	DONSON (I382fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1398246	NM_017613.4(DONSON):c.1135A>G (p.Ile379Val)	DONSON (I379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098401	NM_017613.4(DONSON):c.1086_1087dup (p.Ser363fs)	DONSON (S363fs)	Duplication (frameshift variant)	See cases	GPathogenic
Select item 1628502	NM_017613.4(DONSON):c.1059C>T (p.Ile353=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974721	NM_017613.4(DONSON):c.1056C>T (p.Ala352=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490371	NM_017613.4(DONSON):c.1048G>C (p.Glu350Gln)	DONSON (E350Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431414	NM_017613.4(DONSON):c.1047-9A>G	DONSON	Single nucleotide variant (intron variant)	Microcephaly-micromelia syndrome +2 more	GPathogenic
Select item 2964339	NM_017613.4(DONSON):c.1047-20dup	DONSON	Duplication (intron variant)	not provided	GLikely benign
Select item 1662362	NM_017613.4(DONSON):c.1046+8A>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878141	NM_017613.4(DONSON):c.1046+2T>C	DONSON	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1334638	NM_017613.4(DONSON):c.1032C>T (p.Ser344=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1373807	NM_017613.4(DONSON):c.1031G>C (p.Ser344Thr)	DONSON (S344T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087443	NM_017613.4(DONSON):c.999T>A (p.Ser333Arg)	DONSON (S333R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544786	NM_017613.4(DONSON):c.990A>C (p.Ile330=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578042	NM_017613.4(DONSON):c.979C>G (p.Leu327Val)	DONSON (L327V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561097	NM_017613.4(DONSON):c.965-3T>C	DONSON	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610871	NM_017613.4(DONSON):c.965-6A>C	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954862	NM_017613.4(DONSON):c.965-7C>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506028	NM_017613.4(DONSON):c.965-13G>A	DONSON	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1245386	NM_017613.4(DONSON):c.965-51del	DONSON	Deletion (intron variant)	not provided	GBenign
Select item 1637566	NM_017613.4(DONSON):c.964+13G>A	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565183	NM_017613.4(DONSON):c.964+10T>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125221	NM_017613.4(DONSON):c.964+9T>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2526462	NM_017613.4(DONSON):c.956G>C (p.Arg319Thr)	DONSON (R319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085218	NM_017613.4(DONSON):c.938G>A (p.Gly313Asp)	DONSON (G313D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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