"Ambry Genetics"[submitter] AND "RFX8"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153522	NM_001145664.2(RFX8):c.1354A>C (p.Ile452Leu)	RFX8 (I281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153520	NM_001145664.2(RFX8):c.1303C>G (p.Pro435Ala)	RFX8 (P264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244058	NM_001145664.2(RFX8):c.1291A>C (p.Lys431Gln)	RFX8 (K260Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244396	NM_001145664.2(RFX8):c.1283G>A (p.Ser428Asn)	RFX8 (S428N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153518	NM_001145664.2(RFX8):c.1180G>A (p.Val394Met)	RFX8 (V223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362633	NM_001145664.2(RFX8):c.1180G>T (p.Val394Leu)	RFX8 (V223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337564	NM_001145664.2(RFX8):c.1073A>G (p.Gln358Arg)	RFX8 (Q358R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263611	NM_001145664.2(RFX8):c.1048G>T (p.Asp350Tyr)	RFX8 (D179Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553183	NM_001145664.2(RFX8):c.938A>G (p.His313Arg)	RFX8 (H313R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462414	NM_001145664.2(RFX8):c.934T>C (p.Trp312Arg)	RFX8 (W141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153527	NM_001145664.2(RFX8):c.875T>G (p.Leu292Arg)	RFX8 (L292R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269511	NM_001145664.2(RFX8):c.862C>A (p.Leu288Met)	RFX8 (L117M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522643	NM_001145664.2(RFX8):c.685G>A (p.Ala229Thr)	RFX8 (A58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153526	NM_001145664.2(RFX8):c.676C>T (p.Arg226Trp)	RFX8 (R55W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153525	NM_001145664.2(RFX8):c.640A>T (p.Thr214Ser)	RFX8 (T214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495377	NM_001145664.2(RFX8):c.638G>C (p.Gly213Ala)	RFX8 (G42A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511383	NM_001145664.2(RFX8):c.635A>T (p.Gln212Leu)	RFX8 (Q41L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215914	NM_001145664.2(RFX8):c.632A>G (p.Asn211Ser)	RFX8 (N211S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257393	NM_001145664.2(RFX8):c.578T>G (p.Leu193Trp)	RFX8 (L193W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153524	NM_001145664.2(RFX8):c.537G>C (p.Lys179Asn)	RFX8 (K179N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026849	NM_001145664.2(RFX8):c.466G>A (p.Gly156Ser)	RFX8 (G156S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2348463	NM_001145664.2(RFX8):c.254C>G (p.Thr85Ser)	RFX8 (T85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365723	NM_001145664.2(RFX8):c.233G>A (p.Arg78Gln)	RFX8 (R78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2468201	NM_001145664.2(RFX8):c.202G>A (p.Glu68Lys)	RFX8 (E68K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458158	NM_001145664.2(RFX8):c.201C>G (p.Asp67Glu)	RFX8 (D67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398819	NM_001145664.2(RFX8):c.186G>A (p.Met62Ile)	RFX8 (M62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215046	NM_001145664.2(RFX8):c.184A>G (p.Met62Val)	RFX8 (M62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153521	NM_001145664.2(RFX8):c.132G>T (p.Arg44Ser)	RFX8 (R44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313953	NM_001145664.2(RFX8):c.106G>C (p.Val36Leu)	RFX8 (V36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313954	NM_001145664.2(RFX8):c.49G>A (p.Val17Ile)	RFX8 (V17I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507507	NM_001145664.2(RFX8):c.47A>C (p.Gln16Pro)	RFX8 (Q16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153523	NM_001145664.2(RFX8):c.38C>G (p.Thr13Ser)	RFX8 (T13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360527	NM_001145664.2(RFX8):c.16G>A (p.Val6Met)	RFX8 (V6M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 33