"Ambry Genetics"[submitter] AND "PCGF2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2159950	NM_007144.3(PCGF2):c.1025C>G (p.Pro342Arg)	CISD3, PCGF2 (P342R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1560211	NM_007144.3(PCGF2):c.1025C>A (p.Pro342His)	CISD3, PCGF2 (P342H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2192218	NM_007144.3(PCGF2):c.1018G>A (p.Val340Met)	CISD3, PCGF2 (V340M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2285890	NM_007144.3(PCGF2):c.991C>T (p.Arg331Cys)	CISD3, PCGF2 (R331C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301194	NM_007144.3(PCGF2):c.946G>A (p.Gly316Ser)	CISD3, PCGF2 (G316S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2174713	NM_007144.3(PCGF2):c.721G>A (p.Val241Met)	CISD3, PCGF2 (V241M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2080640	NM_007144.3(PCGF2):c.703C>T (p.Arg235Trp)	CISD3, PCGF2 (R235W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2555458	NM_007144.3(PCGF2):c.695C>G (p.Ala232Gly)	CISD3, PCGF2 (A232G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1654717	NM_007144.3(PCGF2):c.431G>A (p.Arg144Gln)	PCGF2 (R144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1525505	NM_007144.3(PCGF2):c.377G>A (p.Ser126Asn)	PCGF2 (S126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2601837	NM_007144.3(PCGF2):c.325G>A (p.Gly109Ser)	PCGF2 (G109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1904823	NM_007144.3(PCGF2):c.281G>A (p.Arg94Gln)	PCGF2 (R94Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 619193	NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)	PCGF2 (P65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 624617	NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser)	PCGF2 (P65S)	Single nucleotide variant (missense variant)	Turnpenny-fry syndrome +1 more	GLikely pathogenic
Select item 2525912	NM_007144.3(PCGF2):c.172G>A (p.Val58Met)	PCGF2 (V58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1986866	NM_007144.3(PCGF2):c.113-5C>T	PCGF2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1558264	NM_007144.3(PCGF2):c.51G>A (p.Met17Ile)	PCGF2 (M17I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2325754	NM_007144.3(PCGF2):c.5A>C (p.His2Pro)	PCGF2 (H2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance