ClinVar for Gene (Select 29980) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3504715	NM_017613.4(DONSON):c.1018G>A (p.Ala340Thr)	DONSON (A340T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3504714	NM_017613.4(DONSON):c.1102A>C (p.Met368Leu)	DONSON (M368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393415	NM_017613.4(DONSON):c.70A>G (p.Lys24Glu)	DONSON (K24E)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GUncertain significance
Select item 3391941	GRCh37/hg19 21q22.11(chr21:32925452-35162911)x1	CFAP298, CRYZL1 +24 more	Copy number loss	not provided	GPathogenic
Select item 3391864	GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3	KRTAP10-2, KRTAP10-3 +134 more	Copy number gain	not provided	GPathogenic
Select item 3384067	NM_017613.4(DONSON):c.671_681del (p.Pro224fs)	DONSON (P224fs)	Deletion (frameshift variant)	Microcephaly	GPathogenic
Select item 3384066	NM_017613.4(DONSON):c.763C>T (p.Gln255Ter)	DONSON (Q255*)	Single nucleotide variant (nonsense)	Microcephaly	GLikely pathogenic
Select item 3340394	NM_017613.4(DONSON):c.1474_1475del (p.Gln492fs)	DONSON (Q492fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3273502	NM_017613.4(DONSON):c.293C>T (p.Ala98Val)	DONSON (A98V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273501	NM_017613.4(DONSON):c.89G>T (p.Gly30Val)	DONSON (G30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273500	NM_017613.4(DONSON):c.49G>A (p.Glu17Lys)	DONSON (E17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273498	NM_017613.4(DONSON):c.236C>T (p.Pro79Leu)	DONSON (P79L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3273496	NM_017613.4(DONSON):c.55G>C (p.Val19Leu)	DONSON (V19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3273495	NM_017613.4(DONSON):c.52G>A (p.Val18Ile)	DONSON (V18I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273494	NM_017613.4(DONSON):c.569G>A (p.Cys190Tyr)	DONSON (C190Y)	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 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
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 3085218	NM_017613.4(DONSON):c.938G>A (p.Gly313Asp)	DONSON (G313D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085215	NM_017613.4(DONSON):c.481A>T (p.Thr161Ser)	DONSON (T161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085214	NM_017613.4(DONSON):c.404C>G (p.Thr135Ser)	DONSON (T135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085213	NM_017613.4(DONSON):c.320C>G (p.Pro107Arg)	DONSON (P107R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3075994	NM_017613.4(DONSON):c.938del (p.Gly313fs)	DONSON (G313fs)	Deletion (frameshift variant)	Microcephaly, short stature, and limb abnormalities	GLikely pathogenic
Select item 3062435	GRCh37/hg19 21q22.11(chr21:34956970-35006565)x1	CRYZL1, DONSON	Copy number loss	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062422	GRCh37/hg19 21q22.11(chr21:34809971-34966753)x1	CRYZL1, DNAJC28 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3051838	NM_017613.4(DONSON):c.607-31_607-27del	DONSON	Deletion (intron variant)	DONSON-related disorder	GLikely benign
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 3031745	NM_017613.4(DONSON):c.1563+1G>A	DONSON	Single nucleotide variant (splice donor variant)	DONSON-related disorder	GLikely pathogenic
Select item 3023709	NM_017613.4(DONSON):c.403-11G>C	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989764	NM_017613.4(DONSON):c.606+14A>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986970	NM_017613.4(DONSON):c.96C>T (p.Ala32=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976731	NM_017613.4(DONSON):c.1401A>G (p.Gln467=)	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 2970129	NM_017613.4(DONSON):c.1524A>T (p.Val508=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968347	NM_017613.4(DONSON):c.403-11G>A	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964339	NM_017613.4(DONSON):c.1047-20dup	DONSON	Duplication (intron variant)	not provided	GLikely benign
Select item 2964139	NM_017613.4(DONSON):c.483G>A (p.Thr161=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958200	NM_017613.4(DONSON):c.1341A>G (p.Gln447=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878317	NM_017613.4(DONSON):c.321+17C>A	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 2875690	NM_017613.4(DONSON):c.1375_1376del (p.Gln459fs)	DONSON (Q459fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2868804	NM_017613.4(DONSON):c.279C>T (p.Pro93=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2860618	NM_017613.4(DONSON):c.1390T>C (p.Tyr464His)	DONSON (Y464H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859829	NM_017613.4(DONSON):c.1564-18G>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850988	NM_017613.4(DONSON):c.322-20_322-18del	DONSON	Deletion (intron variant)	not provided	GLikely benign
Select item 2832713	NM_017613.4(DONSON):c.744G>A (p.Trp248Ter)	DONSON (W248*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2830851	NM_017613.4(DONSON):c.495C>T (p.Phe165=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807994	NM_017613.4(DONSON):c.183G>A (p.Ala61=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2755407	NM_017613.4(DONSON):c.1572T>C (p.Val524=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737715	NM_017613.4(DONSON):c.607-8G>A	DONSON	Single nucleotide variant (intron 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 2707487	NM_017613.4(DONSON):c.1671G>A (p.Leu557=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2663306	NM_017613.4(DONSON):c.64C>T (p.Arg22Ter)	DONSON (R22*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2652629	NM_017613.4(DONSON):c.178G>C (p.Ala60Pro)	DONSON (A60P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624091	NM_017613.4(DONSON):c.104C>G (p.Pro35Arg)	DONSON (P35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2572996	NM_017613.4(DONSON):c.129_144dup (p.Leu49fs)	DONSON (L49fs)	Duplication (frameshift variant)	Microcephaly, short stature, and limb abnormalities	GPathogenic
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 2506028	NM_017613.4(DONSON):c.965-13G>A	DONSON	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2498896	NM_017613.4(DONSON):c.*4C>T	DONSON	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2470168	NM_017613.4(DONSON):c.724G>A (p.Ala242Thr)	DONSON (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2441019	NM_017613.4(DONSON):c.664C>G (p.Leu222Val)	DONSON (L222V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2421636	NM_017613.4(DONSON):c.378A>G (p.Arg126=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414741	NM_017613.4(DONSON):c.751G>A (p.Asp251Asn)	DONSON (D251N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2414463	NM_017613.4(DONSON):c.352C>G (p.Leu118Val)	DONSON (L118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2280041	NM_017613.4(DONSON):c.1456A>G (p.Met486Val)	DONSON (M486V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266963	NM_017613.4(DONSON):c.659A>G (p.Tyr220Cys)	DONSON (Y220C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261237	NM_017613.4(DONSON):c.101C>T (p.Ser34Phe)	DONSON (S34F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260747	NM_017613.4(DONSON):c.481A>C (p.Thr161Pro)	DONSON (T161P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2228192	NM_017613.4(DONSON):c.485G>A (p.Arg162Gln)	DONSON (R162Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2222598	NM_017613.4(DONSON):c.916del (p.Leu306fs)	DONSON (L306fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2201724	NM_017613.4(DONSON):c.810T>C (p.Tyr270=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191595	NM_017613.4(DONSON):c.607-7A>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187243	NM_017613.4(DONSON):c.1350+4_1350+5insATGCAAATGC	DONSON	Insertion (intron variant)	not provided	GUncertain significance
Select item 2187242	NM_017613.4(DONSON):c.1350+6A>T	DONSON	Single nucleotide variant (intron variant)	not provided	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 2175133	NM_017613.4(DONSON):c.798T>C (p.Phe266=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174225	NM_017613.4(DONSON):c.734C>T (p.Thr245Ile)	DONSON (T245I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171350	NM_017613.4(DONSON):c.892G>T (p.Ala298Ser)	DONSON (A298S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164186	NM_017613.4(DONSON):c.354A>G (p.Leu118=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138383	NM_017613.4(DONSON):c.786-7T>C	DONSON	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2125221	NM_017613.4(DONSON):c.964+9T>G	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117557	NM_017613.4(DONSON):c.1350+15C>T	DONSON	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114343	NM_017613.4(DONSON):c.77C>T (p.Ala26Val)	DONSON (A26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105394	NM_017613.4(DONSON):c.1324del (p.Arg442fs)	DONSON (R442fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2099543	NM_017613.4(DONSON):c.139G>C (p.Ala47Pro)	DONSON (A47P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098995	NM_017613.4(DONSON):c.225T>G (p.Ala75=)	DONSON	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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