ClinVar for MedGen (Select 82697) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362657	NM_015922.3(NSDHL):c.164A>G (p.Glu55Gly)	NSDHL (E55G)	Single nucleotide variant (missense variant)	Child syndrome	GUncertain significance
Select item 3068656	NM_015922.3(NSDHL):c.414+2T>C	NSDHL	Single nucleotide variant (splice donor variant)	Child syndrome	GUncertain significance
Select item 2441794	NM_015922.3(NSDHL):c.387del (p.Ile129fs)	NSDHL (I129fs)	Deletion (frameshift variant)	Child syndrome +1 more	GLikely pathogenic
Select item 1801363	NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)	NSDHL (R15W)	Single nucleotide variant (missense variant)	CK syndrome +2 more	GUncertain significance
Select item 1800569	NM_015922.3(NSDHL):c.796C>T (p.His266Tyr)	NSDHL (H266Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1611000	NM_015922.3(NSDHL):c.612C>T (p.Phe204=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +2 more	GBenign/Likely benign
Select item 1548268	NM_015922.3(NSDHL):c.268-15dup	NSDHL	Duplication (intron variant)	CK syndrome +2 more	GBenign/Likely benign
Select item 1468939	NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)	NSDHL (K344R)	Single nucleotide variant (missense variant)	Child syndrome +2 more	GUncertain significance
Select item 1361740	NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)	NSDHL (N187S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1336685	NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)	NSDHL (Q89E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1311669	NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)	NSDHL (R88Q)	Single nucleotide variant (missense variant)	CK syndrome +2 more	GUncertain significance
Select item 1297520	NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)	NSDHL (P316R)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 804099	NM_015922.3(NSDHL):c.*129C>T	NSDHL	Single nucleotide variant (3 prime UTR variant)	Child syndrome	GBenign
Select item 800901	NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)	NSDHL (S106L)	Single nucleotide variant (missense variant)	Child syndrome	GLikely pathogenic
Select item 772278	NM_015922.3(NSDHL):c.987C>T (p.Val329=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +2 more	GBenign/Likely benign
Select item 718187	NM_015922.3(NSDHL):c.834C>T (p.Phe278=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +2 more	GBenign/Likely benign
Select item 707162	NM_015922.3(NSDHL):c.306C>T (p.Phe102=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 706009	NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)	NSDHL (W298L)	Single nucleotide variant (missense variant)	Child syndrome +2 more	GLikely benign
Select item 703493	NM_015922.3(NSDHL):c.678C>T (p.Phe226=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +2 more	GBenign/Likely benign
Select item 698117	NM_015922.3(NSDHL):c.351T>C (p.Phe117=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +2 more	GBenign/Likely benign
Select item 373975	NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)	NSDHL (L352V)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 211748	NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)	NSDHL (G348fs)	Duplication (frameshift variant)	Child syndrome	GPathogenic
Select item 159457	NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)	NSDHL (Y302*)	Single nucleotide variant (nonsense)	Child syndrome	GPathogenic
Select item 159456	NM_015922.3(NSDHL):c.904del (p.Tyr302fs)	NSDHL (Y302fs)	Deletion (frameshift variant)	Child syndrome	GPathogenic
Select item 159454	NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)	NSDHL (Q253*)	Single nucleotide variant (nonsense)	Child syndrome	GPathogenic
Select item 159453	NM_015922.3(NSDHL):c.727G>A (p.Val243Met)	NSDHL (V243M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 159452	NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)	NSDHL (R199C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159450	NM_015922.3(NSDHL):c.132T>G (p.Gly44=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +3 more	GBenign
Select item 159449	NM_015922.3(NSDHL):c.1114del (p.Val372fs)	NSDHL (V372fs)	Deletion (frameshift variant)	Child syndrome	GLikely pathogenic
Select item 159448	NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +4 more	GBenign/Likely benign
Select item 21265	NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)	NSDHL (Y349C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 11431	NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)	NSDHL (E151*)	Single nucleotide variant (nonsense)	Child syndrome	GPathogenic
Select item 11430	NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)	NSDHL (A182P)	Single nucleotide variant (missense variant)	Child syndrome	GPathogenic
Select item 11429	NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	NSDHL (R88*)	Single nucleotide variant (nonsense)	Child syndrome	GPathogenic
Select item 11428	NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter)	NSDHL (Q210*)	Single nucleotide variant (nonsense)	Child syndrome	GPathogenic
Select item 11427	NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	NSDHL (G205S)	Single nucleotide variant (missense variant)	Child syndrome	GPathogenic
Select item 11426	NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	NSDHL (A105V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 37