ClinVar (all) for Orgtrack (Select 505370) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599404	NM_001326411.2(PISD):c.697+5G>A	PISD	Single nucleotide variant (intron variant)	PISD-related mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 599401	NM_001326411.2(PISD):c.830G>A (p.Arg277Gln)	PISD (R277Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503604	NM_002140.4(HNRNPK):c.1094delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 503603	NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)	HNRNPK (R287* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 503602	NM_002140.4(HNRNPK):c.1009delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 503601	NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)	HNRNPK (Y309* +1 more)	Duplication (nonsense)	Au-Kline syndrome	GPathogenic
Select item 449308	NM_031263.4(HNRNPK):c.1008+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome +1 more	GPathogenic
Select item 280639	NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)	HNRNPK	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 218949	NM_001383.6(DPH1):c.2T>A (p.Met1Lys)	DPH1 (M6K +1 more)	Single nucleotide variant (missense variant +3 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more	GPathogenic/Likely pathogenic
Select item 212776	NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)	HNRNPK, HNRNPK-AS1 (R86H)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GPathogenic/Likely pathogenic
Select item 212775	NM_031263.4(HNRNPK):c.953+1dup	HNRNPK	Duplication (splice donor variant)	Au-Kline syndrome	GPathogenic
Select item 208841	NM_005850.5(SF3B4):c.88del (p.Trp30fs)	SF3B4 (W30fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208840	NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter)	SF3B4 (S151*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 208839	NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter)	SF3B4 (Q209*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 208838	NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs)	SF3B4 (N222fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208837	NM_005850.5(SF3B4):c.769del (p.Ile257fs)	SF3B4 (I257fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208836	NM_005850.5(SF3B4):c.796dup (p.Met266fs)	SF3B4 (M266fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208835	NM_005850.5(SF3B4):c.827dup (p.Ser277fs)	SF3B4 (S277fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208834	NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs)	SF3B4 (T280fs)	Insertion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208833	NM_005850.5(SF3B4):c.864del (p.His288fs)	SF3B4 (H288fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208831	NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)	SF3B4 (R354fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 208830	NM_005850.5(SF3B4):c.1148dup (p.His383fs)	SF3B4 (H383fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208829	NM_005850.5(SF3B4):c.1199del (p.Pro400fs)	SF3B4 (P400fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208828	NM_005850.5(SF3B4):c.1232del (p.Pro411fs)	SF3B4 (P411fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208827	NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)	SF3B4 (L418fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 189222	NM_005982.4(SIX1):c.560+1G>C	SIX1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 3	GLikely pathogenic
Select item 31653	NM_005850.5(SF3B4):c.913+1G>A	SF3B4	Single nucleotide variant (splice donor variant)	Nager syndrome	GPathogenic
Select item 31652	NM_005850.5(SF3B4):c.1147del (p.His383fs)	SF3B4 (H383fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 31651	NM_005850.5(SF3B4):c.1147dup (p.His383fs)	SF3B4 (H383fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 31650	NM_005850.5(SF3B4):c.1A>G (p.Met1Val)	LOC129931382, SF3B4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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Items: 30