"Ambry Genetics"[submitter] AND "RPL31"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1974635	NM_000993.5(RPL31):c.103G>A (p.Gly35Arg)	RPL31 (G35R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2287297	NM_000993.5(RPL31):c.140A>G (p.Lys47Arg)	RPL31 (K47R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2603586	NM_000993.5(RPL31):c.148C>T (p.Arg50Trp)	RPL31 (R50W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3156072	NM_000993.5(RPL31):c.156T>A (p.Phe52Leu)	RPL31 (F52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156073	NM_000993.5(RPL31):c.259C>T (p.Arg87Trp)	RPL31 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315196	NM_000993.5(RPL31):c.342C>G (p.Phe114Leu)	RPL31 (F114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271520	NM_001330348.2(TBC1D8):c.3428G>A (p.Ser1143Asn)	RPL31, TBC1D8 (S1128N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246960	NM_001330348.2(TBC1D8):c.3423A>C (p.Glu1141Asp)	RPL31, TBC1D8 (E1126D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553727	NM_001330348.2(TBC1D8):c.3373T>C (p.Ser1125Pro)	RPL31, TBC1D8 (S1125P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235420	NM_001330348.2(TBC1D8):c.3242C>G (p.Thr1081Arg)	RPL31, TBC1D8 (T1066R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174701	NM_001330348.2(TBC1D8):c.3190C>T (p.Arg1064Trp)	RPL31, TBC1D8 (R1049W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510178	NM_001330348.2(TBC1D8):c.3155C>T (p.Ser1052Phe)	RPL31, TBC1D8 (S1037F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174700	NM_001330348.2(TBC1D8):c.3104T>C (p.Val1035Ala)	RPL31, TBC1D8 (V1020A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174699	NM_001330348.2(TBC1D8):c.2978A>G (p.Lys993Arg)	RPL31, TBC1D8 (K993R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368900	NM_001330348.2(TBC1D8):c.2915A>G (p.Asn972Ser)	RPL31, TBC1D8 (N972S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382135	NM_001330348.2(TBC1D8):c.2912C>A (p.Pro971His)	RPL31, TBC1D8 (P971H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308976	NM_001330348.2(TBC1D8):c.2879T>C (p.Leu960Ser)	RPL31, TBC1D8 (L945S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance