"Ambry Genetics"[submitter] AND "LOC126861886"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2401477	NM_018071.5(ARHGEF40):c.3791T>C (p.Ile1264Thr)	ARHGEF40, LOC126861886 (I1264T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328700	NM_018071.5(ARHGEF40):c.3819G>C (p.Leu1273Phe)	ARHGEF40, LOC126861886 (L1273F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542928	NM_018071.5(ARHGEF40):c.3841A>G (p.Ile1281Val)	ARHGEF40, LOC126861886 (I1281V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378421	NM_018071.5(ARHGEF40):c.3923G>C (p.Gly1308Ala)	ARHGEF40, LOC126861886 (G1308A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411347	NM_018071.5(ARHGEF40):c.3934A>G (p.Met1312Val)	ARHGEF40, LOC126861886 (M1312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558651	NM_018071.5(ARHGEF40):c.3970A>G (p.Met1324Val)	ARHGEF40, LOC126861886 (M610V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129356	NM_018071.5(ARHGEF40):c.3991G>A (p.Gly1331Arg)	ARHGEF40, LOC126861886 (G1331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269133	NM_018071.5(ARHGEF40):c.4031G>A (p.Arg1344Gln)	ARHGEF40, LOC126861886 (R1344Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129357	NM_018071.5(ARHGEF40):c.4052C>T (p.Thr1351Ile)	ARHGEF40, LOC126861886 (T1351I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance