Related gene-specific medical variations for Gene (Select 11138) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344985	NM_001098577.3(RPL31):c.359A>C (p.Asn120Thr)	RPL31, TBC1D8 (N120T)	Single nucleotide variant (missense variant +1 more)	RPL31-related condition	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 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 2784319	NM_001098577.3(RPL31):c.347-1_357del	RPL31, TBC1D8	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2619211	NM_001330348.2(TBC1D8):c.11A>G (p.Lys4Arg)	LOC129934458, TBC1D8 (K4R)	Single nucleotide variant (missense variant +1 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 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 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 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 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
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 2252199	NM_001330348.2(TBC1D8):c.45G>T (p.Lys15Asn)	LOC129934458, TBC1D8 (K15N)	Single nucleotide variant (missense variant +1 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 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 1973977	NM_001098577.3(RPL31):c.359del (p.Asn120fs)	RPL31, TBC1D8 (N120fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1287016	NM_001098577.3(RPL31):c.*38C>T	RPL31, TBC1D8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1256912	NM_001330348.2(TBC1D8):c.2905G>A (p.Gly969Arg)	RPL31, TBC1D8 (G954R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1248315	NM_001330348.2(TBC1D8):c.3416_3418dup (p.Thr1139_Phe1140insSer)	RPL31, TBC1D8	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1233276	NM_001098577.3(RPL31):c.347-173C>T	TBC1D8, RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183797	NM_001098577.3(RPL31):c.347-91G>A	RPL31, TBC1D8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774833	NM_001330348.2(TBC1D8):c.3225T>C (p.Phe1075=)	RPL31, TBC1D8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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Links from Gene

Items: 22