"Ambry Genetics"[submitter] AND "ARFIP2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400741	NM_001376558.2(ARFIP2):c.917C>T (p.Ser306Phe)	ARFIP2 (S267F +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2615351	NM_001376558.2(ARFIP2):c.905A>G (p.His302Arg)	ARFIP2 (H274R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533137	NM_001376558.2(ARFIP2):c.779G>A (p.Ser260Asn)	ARFIP2 (S175N +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322487	NM_001376558.2(ARFIP2):c.697C>G (p.Leu233Val)	ARFIP2 (L194V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355813	NM_001376558.2(ARFIP2):c.607G>A (p.Val203Met)	ARFIP2 (V187M +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232440	NM_001376558.2(ARFIP2):c.364G>A (p.Val122Met)	ARFIP2 (V155M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252987	NM_001376558.2(ARFIP2):c.197-16G>A	ARFIP2 (E33K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304582	NM_001376558.2(ARFIP2):c.197-87C>T	ARFIP2 (S70L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345468	NM_001376558.2(ARFIP2):c.188T>C (p.Ile63Thr)	ARFIP2 (I25T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463069	NM_001376558.2(ARFIP2):c.76C>T (p.Pro26Ser)	ARFIP2 (P26S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance