"Ambry Genetics"[submitter] AND "NMRAL1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594248	NM_020677.6(NMRAL1):c.890A>C (p.Asn297Thr)	NMRAL1 (N297T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356670	NM_020677.6(NMRAL1):c.880G>A (p.Gly294Arg)	NMRAL1 (G231R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2565691	NM_020677.6(NMRAL1):c.858C>G (p.Asp286Glu)	NMRAL1 (D223E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200838	NM_020677.6(NMRAL1):c.819G>C (p.Glu273Asp)	NMRAL1 (E210D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209388	NM_020677.6(NMRAL1):c.785G>A (p.Arg262His)	NMRAL1 (R199H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200837	NM_020677.6(NMRAL1):c.712G>A (p.Asp238Asn)	NMRAL1 (D175N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549086	NM_020677.6(NMRAL1):c.647C>T (p.Thr216Ile)	NMRAL1 (T153I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200836	NM_020677.6(NMRAL1):c.622G>A (p.Val208Ile)	NMRAL1 (V145I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2484910	NM_020677.6(NMRAL1):c.572C>G (p.Ser191Cys)	NMRAL1 (S191C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454455	NM_020677.6(NMRAL1):c.554T>C (p.Met185Thr)	NMRAL1 (M185T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613044	NM_020677.6(NMRAL1):c.510C>A (p.Asp170Glu)	NMRAL1 (D170E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306829	NM_020677.6(NMRAL1):c.428T>C (p.Ile143Thr)	NMRAL1 (I80T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310218	NM_020677.6(NMRAL1):c.422G>A (p.Arg141Gln)	NMRAL1 (R141Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372019	NM_020677.6(NMRAL1):c.421C>T (p.Arg141Trp)	NMRAL1 (R141W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377235	NM_020677.6(NMRAL1):c.394G>A (p.Gly132Ser)	NMRAL1 (G132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281811	NM_020677.6(NMRAL1):c.382G>A (p.Ala128Thr)	NMRAL1 (A128T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200834	NM_020677.6(NMRAL1):c.362C>T (p.Thr121Met)	NMRAL1 (T58M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240166	NM_020677.6(NMRAL1):c.329T>C (p.Val110Ala)	NMRAL1 (V110A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609819	NM_020677.6(NMRAL1):c.317T>A (p.Leu106His)	NMRAL1 (L106H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271451	NM_020677.6(NMRAL1):c.308G>A (p.Arg103His)	NMRAL1 (R103H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2556501	NM_020677.6(NMRAL1):c.292G>A (p.Ala98Thr)	NMRAL1 (A35T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209680	NM_020677.6(NMRAL1):c.239A>G (p.Asn80Ser)	NMRAL1 (N80S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200833	NM_020677.6(NMRAL1):c.224C>T (p.Thr75Ile)	NMRAL1 (T75I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589405	NM_020677.6(NMRAL1):c.128C>T (p.Ala43Val)	NMRAL1 (A43V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213114	NM_020677.6(NMRAL1):c.125A>C (p.Lys42Thr)	NMRAL1 (K42T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2560485	NM_020677.6(NMRAL1):c.110G>A (p.Arg37Gln)	NMRAL1 (R37Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200839	NM_020677.6(NMRAL1):c.92A>C (p.Lys31Thr)	NMRAL1 (K31T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303274	NM_020677.6(NMRAL1):c.64C>T (p.Arg22Cys)	NMRAL1 (R22C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325857	NM_020677.6(NMRAL1):c.58G>A (p.Val20Met)	NMRAL1 (V20M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 29