"GeneDx"[submitter] AND "SORD"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285767	NM_003104.6(SORD):c.101-178T>C	SORD	Single nucleotide variant (intron variant)	not provided	GBenign
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)	not provided +1 more	GBenign
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 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 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 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 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 768706	NM_003104.6(SORD):c.716A>T (p.Gln239Leu)	SORD (Q239L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1228326	NM_003104.6(SORD):c.777G>A (p.Ala259=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1229011	NM_003104.6(SORD):c.806A>C (p.Asn269Thr)	SORD (N269T)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +1 more	GBenign
Select item 1261613	NM_003104.6(SORD):c.908+11C>T	SORD	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 8 +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 1271076	NM_003104.6(SORD):c.951T>C (p.Asn317=)	SORD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1698070	NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)	SORD (G341*)	Single nucleotide variant (nonsense +1 more)	not specified +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 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 253933	GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	C15orf48, TERB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

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Items: 42