"Ambry Genetics"[submitter] AND "LOC121392928"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313303	NM_014786.4(ARHGEF17):c.4526G>A (p.Cys1509Tyr)	LOC121392928, ARHGEF17 (C1509Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483848	NM_014786.4(ARHGEF17):c.4563C>G (p.Ser1521Arg)	ARHGEF17, LOC121392928 (S1521R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129149	NM_014786.4(ARHGEF17):c.4567G>C (p.Gly1523Arg)	ARHGEF17, LOC121392928 (G1523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410044	NM_014786.4(ARHGEF17):c.4759G>A (p.Asp1587Asn)	ARHGEF17, LOC121392928 (D1587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240191	NM_014786.4(ARHGEF17):c.4772C>A (p.Ala1591Asp)	ARHGEF17, LOC121392928 (A1591D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129150	NM_014786.4(ARHGEF17):c.4780G>A (p.Glu1594Lys)	ARHGEF17, LOC121392928 (E1594K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612265	NM_014786.4(ARHGEF17):c.4798G>C (p.Ala1600Pro)	ARHGEF17, LOC121392928 (A1600P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313227	NM_014786.4(ARHGEF17):c.4815G>T (p.Gln1605His)	ARHGEF17, LOC121392928 (Q1605H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance