ClinVar for MedGen (Select 1648281) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064790	NM_006268.5(DPF2):c.970T>G (p.Cys324Gly)	DPF2 (C324G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GLikely pathogenic
Select item 2442163	NM_006268.5(DPF2):c.1094dup (p.Pro365_Glu366insTer)	DPF2	Duplication (frameshift variant)	Coffin-Siris syndrome 7	GLikely pathogenic
Select item 2441022	NM_006268.5(DPF2):c.203C>A (p.Ser68Tyr)	DPF2 (S68Y)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 2441021	NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)	DPF2 (A133P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 1805984	NM_006268.5(DPF2):c.1067G>C (p.Cys356Ser)	DPF2 (C356S +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GLikely pathogenic
Select item 1803136	NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)	DPF2 (E170Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 1678611	NM_006268.5(DPF2):c.1169C>A (p.Ser390Tyr)	DPF2 (S390Y +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 1676450	NM_006268.5(DPF2):c.1099+2dup	DPF2	Duplication	Coffin-Siris syndrome 7	GLikely pathogenic
Select item 1639923	NM_006268.5(DPF2):c.302-11C>T	DPF2	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 7 +1 more	GLikely benign
Select item 1328135	NM_006268.5(DPF2):c.844A>T (p.Ile282Phe)	DPF2 (I282F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1321295	NM_006268.5(DPF2):c.1045G>C (p.Asp349His)	DPF2 (D349H +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 1213754	NM_006268.5(DPF2):c.900C>T (p.Arg300=)	DPF2	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 1173064	NM_006268.5(DPF2):c.1066T>G (p.Cys356Gly)	DPF2 (C356G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GPathogenic
Select item 1028497	NM_006268.5(DPF2):c.904+20C>G	DPF2	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 930733	NM_006268.5(DPF2):c.364C>G (p.Leu122Val)	DPF2 (L122V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GUncertain significance
Select item 545686	NM_006268.5(DPF2):c.1099+1G>A	DPF2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 7	GPathogenic
Select item 545685	NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly)	DPF2 (D346G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GPathogenic
Select item 545684	NM_006268.5(DPF2):c.1049G>A (p.Arg350His)	DPF2 (R350H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 545683	NM_006268.5(DPF2):c.990C>G (p.Cys330Trp)	DPF2 (C330W +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 7	GPathogenic
Select item 438643	NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)	DPF2 (C276F +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GPathogenic

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Items: 20