ClinVar for MedGen (Select 463131) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687770	NM_015922.3(NSDHL):c.1010A>G (p.Tyr337Cys)	NSDHL (Y337C)	Single nucleotide variant (missense variant)	CK syndrome	GUncertain significance
Select item 2577480	NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)	NSDHL (G152D)	Single nucleotide variant (missense variant)	CK syndrome	Gnot provided
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 1341846	NM_015922.3(NSDHL):c.44G>A (p.Arg15Gln)	NSDHL (R15Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 159450	NM_015922.3(NSDHL):c.132T>G (p.Gly44=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +3 more	GBenign
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 21268	NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del)	NSDHL (K232del)	Microsatellite (inframe_deletion)	CK syndrome	GPathogenic
Select item 21266	NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)	NSDHL (R367fs)	Duplication (frameshift variant)	CK syndrome	GPathogenic

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Items: 24