SORD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	SLC28A2, SLC28A2-AS1 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2401971	NM_003104.6(SORD):c.43C>T (p.His15Tyr)	SORD (H15Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2664964	NM_003104.6(SORD):c.50C>T (p.Pro17Leu)	SORD (P17L)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 3167593	NM_003104.6(SORD):c.61C>A (p.Arg21Ser)	SORD (R21S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2683307	NM_003104.6(SORD):c.67_69del	SORD	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 1805124	NM_003104.6(SORD):c.73_88del (p.Tyr25fs)	SORD (Y25fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1285767	NM_003104.6(SORD):c.101-178T>C	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026551	NM_003104.6(SORD):c.112dup (p.Arg38fs)	SORD (R38fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3167588	NM_003104.6(SORD):c.117G>A (p.Met39Ile)	SORD (M39I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645287	NM_003104.6(SORD):c.130A>G (p.Ile44Val)	SORD (I44V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2522720	NM_003104.6(SORD):c.149A>G (p.His50Arg)	SORD (H50R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498609	NM_003104.6(SORD):c.182T>C (p.Ile61Thr)	SORD (I61T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1239849	NM_003104.6(SORD):c.266-200G>A	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280097	NM_003104.6(SORD):c.266-35C>T	SORD	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +1 more	GBenign
Select item 3167590	NM_003104.6(SORD):c.274G>C (p.Val92Leu)	SORD (V92L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2436239	NM_003104.6(SORD):c.287C>T (p.Pro96Leu)	SORD (P96L)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1678863	NM_003104.6(SORD):c.298C>T (p.Arg100Ter)	SORD (R100*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1709947	NM_003104.6(SORD):c.306TGA[1] (p.Asp103del)	SORD (D103del)	Microsatellite (inframe_deletion +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1275801	NM_003104.6(SORD):c.328C>T (p.Arg110Ter)	SORD (R110*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3167591	NM_003104.6(SORD):c.359G>A (p.Cys120Tyr)	SORD (C120Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024137	NM_003104.6(SORD):c.361G>C (p.Ala121Pro)	SORD (A121P)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GLikely pathogenic
Select item 1012844	NM_003104.6(SORD):c.372C>T (p.Pro124=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1012845	NM_003104.6(SORD):c.378C>T (p.Asp126=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645288	NM_003104.6(SORD):c.414C>G (p.Ala138=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1227837	NM_003104.6(SORD):c.426-60A>T	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287859	NM_003104.6(SORD):c.426-59T>G	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251031	NM_003104.6(SORD):c.426-21G>A	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3239151	NM_003104.6(SORD):c.435C>G (p.Asp145Glu)	SORD (D145E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1012846	NM_003104.6(SORD):c.458C>A (p.Ala153Asp)	SORD (A153D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2605350	NM_003104.6(SORD):c.467A>G (p.Glu156Gly)	SORD (E156G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488880	NM_003104.6(SORD):c.482G>A (p.Gly161Glu)	SORD (G161E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776886	NM_003104.6(SORD):c.504C>T (p.Gly168=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2473463	NM_003104.6(SORD):c.505G>A (p.Gly169Arg)	SORD (G169R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246090	NM_003104.6(SORD):c.550A>G (p.Ile184Val)	SORD (I184V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2664713	NM_003104.6(SORD):c.553G>A (p.Gly185Arg)	SORD (G185R)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1298617	NM_003104.6(SORD):c.555G>A (p.Gly185=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1175863	NM_003104.6(SORD):c.570C>T (p.Leu190=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2534572	NM_003104.6(SORD):c.571G>A (p.Val191Met)	SORD (V191M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239139	NM_003104.6(SORD):c.579A>G (p.Lys193=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1225125	NM_003104.6(SORD):c.610+143G>T	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271896	NM_003104.6(SORD):c.610+197GA[2]	SORD	Microsatellite (intron variant)	not provided	GBenign
Select item 1288907	NM_003104.6(SORD):c.611-92A>G	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249649	NM_003104.6(SORD):c.611-64C>T	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286011	NM_003104.6(SORD):c.611-9del	SORD	Deletion (intron variant)	not provided	GBenign
Select item 3067375	NM_003104.6(SORD):c.654T>C (p.Ala218=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2498610	NM_003104.6(SORD):c.696C>T (p.Ile232=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645289	NM_003104.6(SORD):c.699C>G (p.Ala233=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 768706	NM_003104.6(SORD):c.716A>T (p.Gln239Leu)	SORD (Q239L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2443691	NM_003104.6(SORD):c.731C>T (p.Pro244Leu)	SORD	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 2213787	NM_003104.6(SORD):c.752C>T (p.Thr251Met)	SORD (T251M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 929258	NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD (A253fs)	Deletion (frameshift variant +1 more)	Neuromuscular disease +5 more	GPathogenic/Likely pathogenic
Select item 1335178	NM_003104.6(SORD):c.755G>T (p.Gly252Val)	SORD (G252V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443690	NM_003104.6(SORD):c.776C>T (p.Ala259Val)	SORD	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 1228326	NM_003104.6(SORD):c.777G>A (p.Ala259=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1298618	NM_003104.6(SORD):c.786+5G>A	SORD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1229944	NM_003104.6(SORD):c.786+35A>G	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273147	NM_003104.6(SORD):c.786+129A>C	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276964	NM_003104.6(SORD):c.786+152T>C	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249858	NM_003104.6(SORD):c.786+155T>C	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276553	NM_003104.6(SORD):c.787-198C>T	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1709111	NM_003104.6(SORD):c.787-3C>G	SORD	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GUncertain significance
Select item 1229011	NM_003104.6(SORD):c.806A>C (p.Asn269Thr)	SORD (N269T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2377100	NM_003104.6(SORD):c.844G>A (p.Val282Ile)	SORD (V282I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2443692	NM_003104.6(SORD):c.851T>C (p.Leu284Pro)	SORD	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 2607126	NM_003104.6(SORD):c.857A>G (p.His286Arg)	SORD (H286R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 929257	NM_003104.6(SORD):c.895C>T (p.Arg299Ter)	SORD (R299*)	Single nucleotide variant (nonsense +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8	GPathogenic
Select item 1261613	NM_003104.6(SORD):c.908+11C>T	SORD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1276424	NM_003104.6(SORD):c.908+133G>A	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178016	NM_003104.6(SORD):c.909-188C>G	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298619	NM_003104.6(SORD):c.935C>T (p.Ala312Val)	SORD (A312V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1694742	NM_003104.6(SORD):c.936G>A (p.Ala312=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637748	NM_003104.6(SORD):c.950del (p.Asn317fs)	SORD (N317fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1271076	NM_003104.6(SORD):c.951T>C (p.Asn317=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2487377	NM_003104.6(SORD):c.955A>C (p.Lys319Gln)	SORD (K319Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487378	NM_003104.6(SORD):c.956A>C (p.Lys319Thr)	SORD (K319T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1290328	NM_003104.6(SORD):c.964G>T (p.Val322Phe)	SORD (V322F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2575791	NM_003104.6(SORD):c.970del (p.His324fs)	SORD (H324fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1275097	NM_003104.6(SORD):c.984G>A (p.Leu328=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2272342	NM_003104.6(SORD):c.998A>G (p.Glu333Gly)	SORD (E333G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1698070	NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)	SORD (G341*)	Single nucleotide variant (nonsense +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +2 more	GConflicting classifications of pathogenicity
Select item 1178625	NM_003104.6(SORD):c.1029G>A (p.Gly343=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1235631	NM_003104.6(SORD):c.1042C>A (p.Leu348Ile)	SORD (L348I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2578733	NM_003104.6(SORD):c.1053C>T (p.Asp351=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2554456	NM_003104.6(SORD):c.1066A>T (p.Asn356Tyr)	SORD (N356Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768707	NM_003104.6(SORD):c.1070C>T (p.Pro357Leu)	SORD (P357L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1270133	NM_003104.6(SORD):c.*2G>A	SORD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1275334	NM_003104.6(SORD):c.*34T>C	SORD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228976	NM_003104.6(SORD):c.*55C>A	SORD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234765	NM_003104.6(SORD):c.*62T>C	SORD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233882	NM_003104.6(SORD):c.*62T>G	SORD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260480	NM_003104.6(SORD):c.*64G>A	SORD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2425892	NC_000015.9:g.(?_45152372)_(45390276_?)dup	DUOX2, SORD +1 more	Duplication	not provided	GUncertain significance
Select item 2424189	NC_000015.9:g.(?_45152372)_(45670651_?)dup	DUOX1, DUOX2 +7 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1526450	GRCh37/hg19 15q21.1(chr15:45056077-45772114)	C15orf48, DUOX1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic

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