"Ambry Genetics"[submitter] AND "PWWP3A"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593069	NM_001369789.1(PWWP3A):c.145A>G (p.Ile49Val)	PWWP3A (I49V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480995	NM_001369789.1(PWWP3A):c.232C>A (p.Pro78Thr)	PWWP3A (P10T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2592366	NM_001369789.1(PWWP3A):c.236C>T (p.Ala79Val)	PWWP3A (A11V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2622755	NM_001369789.1(PWWP3A):c.247G>C (p.Glu83Gln)	PWWP3A (E83Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588918	NM_001369789.1(PWWP3A):c.416C>T (p.Pro139Leu)	PWWP3A (P16L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2463843	NM_001369789.1(PWWP3A):c.476G>A (p.Ser159Asn)	PWWP3A (S36N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597905	NM_001369789.1(PWWP3A):c.758C>T (p.Pro253Leu)	PWWP3A (P130L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2604674	NM_001369789.1(PWWP3A):c.1154G>A (p.Arg385His)	LOC121627844, PWWP3A (R317H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542344	NM_001369789.1(PWWP3A):c.1513G>A (p.Ala505Thr)	PWWP3A (A382T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510416	NM_001369789.1(PWWP3A):c.1618A>G (p.Ser540Gly)	PWWP3A (S417G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2517271	NM_001369789.1(PWWP3A):c.1688G>A (p.Arg563His)	PWWP3A (R495H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2542791	NM_001369789.1(PWWP3A):c.1769G>A (p.Arg590Gln)	PWWP3A (R602Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2555603	NM_001369789.1(PWWP3A):c.1777C>G (p.Leu593Val)	PWWP3A (L470V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523570	NM_001369789.1(PWWP3A):c.1861G>A (p.Asp621Asn)	PWWP3A (D633N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2550456	NM_001369789.1(PWWP3A):c.1907A>G (p.Tyr636Cys)	PWWP3A (Y648C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2614384	NM_001369789.1(PWWP3A):c.2009C>T (p.Ala670Val)	PWWP3A (A547V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2485498	NM_001369789.1(PWWP3A):c.2114G>A (p.Arg705Gln)	PWWP3A (R739Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance