RPL31[gene] - ClinVar

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Items: 81

	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 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 152113	GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3	CNOT11, CREG2 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1978098	NM_000993.5(RPL31):c.39C>G (p.Gly13=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973807	NM_000993.5(RPL31):c.39C>T (p.Gly13=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971968	NM_000993.5(RPL31):c.48C>T (p.Ala16=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2757524	NM_000993.5(RPL31):c.52A>G (p.Asn18Asp)	RPL31 (N18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784148	NM_000993.5(RPL31):c.79A>G (p.Ile27Val)	RPL31 (I27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2132755	NM_000993.5(RPL31):c.107+7A>G	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860864	NM_000993.5(RPL31):c.107+9C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269137	NM_000993.5(RPL31):c.107+13C>G	RPL31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1973823	NM_000993.5(RPL31):c.107+17C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2870654	NM_000993.5(RPL31):c.108-18C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864615	NM_000993.5(RPL31):c.108-14T>C	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786194	NM_000993.5(RPL31):c.108-5C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106535	NM_000993.5(RPL31):c.131G>A (p.Arg44Gln)	RPL31 (R44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694899	NM_000993.5(RPL31):c.137T>G (p.Leu46Arg)	RPL31 (L46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2287297	NM_000993.5(RPL31):c.140A>G (p.Lys47Arg)	RPL31 (K47R)	Single nucleotide variant (missense variant)	not provided +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 2827489	NM_000993.5(RPL31):c.149G>A (p.Arg50Gln)	RPL31 (R50Q)	Single nucleotide variant (missense variant)	not provided	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 1999045	NM_000993.5(RPL31):c.166_168del (p.Glu56del)	RPL31 (E56del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2780082	NM_000993.5(RPL31):c.188G>A (p.Arg63His)	RPL31 (R63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867356	NM_000993.5(RPL31):c.192T>C (p.Ile64=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972003	NM_000993.5(RPL31):c.213T>C (p.Ala71=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804713	NM_000993.5(RPL31):c.233+3G>A	RPL31	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2869596	NM_000993.5(RPL31):c.234-20C>T	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867374	NM_000993.5(RPL31):c.234-16A>G	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863361	NM_000993.5(RPL31):c.234-13A>T	RPL31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026823	NM_000993.5(RPL31):c.234-12T>A	RPL31	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872131	NM_000993.5(RPL31):c.247C>A (p.Arg83=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787582	NM_000993.5(RPL31):c.252C>T (p.Ile84=)	RPL31	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2421580	NM_000993.5(RPL31):c.260G>A (p.Arg87Gln)	RPL31 (R87Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178952	NM_000993.5(RPL31):c.304C>T (p.Leu102=)	RPL31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053046	NM_000993.5(RPL31):c.335C>A (p.Thr112Asn)	RPL31 (T112N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 1248315	NM_001330348.2(TBC1D8):c.3416_3418dup (p.Thr1139_Phe1140insSer)	RPL31, TBC1D8	Duplication (inframe_insertion +2 more)	not provided	GBenign
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 774833	NM_001330348.2(TBC1D8):c.3225T>C (p.Phe1075=)	RPL31, TBC1D8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 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 1233276	NM_001098577.3(RPL31):c.347-173C>T	RPL31, TBC1D8	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 2784319	NM_001098577.3(RPL31):c.347-1_357del	RPL31, TBC1D8	Deletion (splice acceptor variant +1 more)	not provided	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 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 1287016	NM_001098577.3(RPL31):c.*38C>T	RPL31, TBC1D8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442619	GRCh37/hg19 2q11.2(chr2:101320204-102094813)x3	CNOT11, CREG2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic

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Items: 81