"GeneDx"[submitter] AND "RPL31"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 1269137	NM_000993.5(RPL31):c.107+13C>G	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246390	NM_000993.5(RPL31):c.107+51T>C	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251780	NM_000993.5(RPL31):c.107+62G>A	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291849	NM_000993.5(RPL31):c.107+107C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233833	NM_000993.5(RPL31):c.233+21C>G	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291764	NM_000993.5(RPL31):c.234-190C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228799	NM_000993.5(RPL31):c.346+94C>A	RPL31	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234785	NM_000993.5(RPL31):c.347-84C>T	RPL31	Single nucleotide variant (3 prime UTR variant +1 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 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 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	TBC1D8, RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287016	NM_001098577.3(RPL31):c.*38C>T	RPL31, TBC1D8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign