"GeneDx"[submitter] AND "RPL15"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 1194728	NM_002948.5(RPL15):c.-10-118A>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1199763	NM_002948.5(RPL15):c.-10-84T>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2662347	NM_002948.5(RPL15):c.23A>C (p.Gln8Pro)	NKIRAS1, RPL15 (Q8P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 436551	NM_002948.5(RPL15):c.75C>G (p.Val25=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1305196	NM_002948.5(RPL15):c.87G>T (p.Gln29His)	NKIRAS1, RPL15 (Q29H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306432	NM_002948.5(RPL15):c.103G>A (p.Ala35Thr)	NKIRAS1, RPL15 (A35T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706800	NM_002948.5(RPL15):c.173-50G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3359767	NM_002948.5(RPL15):c.182T>C (p.Ile61Thr)	NKIRAS1, RPL15 (I61T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361369	NM_002948.5(RPL15):c.227C>T (p.Pro76Leu)	NKIRAS1, RPL15 (P76L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516587	NM_002948.5(RPL15):c.309+13G>C	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 280195	NM_002948.5(RPL15):c.310-2A>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1308828	NM_002948.5(RPL15):c.514C>T (p.Arg172Cys)	NKIRAS1, RPL15 (R172C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1273668	NM_002948.5(RPL15):c.*225G>A	NKIRAS1, RPL15	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1264068	NM_001253384.2(RPL15):c.361-6_361-5del	NKIRAS1, RPL15	Deletion (intron variant)	not provided	GBenign
Select item 1223244	NM_001253384.2(RPL15):c.361-5del	NKIRAS1, RPL15	Deletion (intron variant)	not provided	GBenign
Select item 1249644	NM_001253384.2(RPL15):c.361-26_361-25insG	NKIRAS1, RPL15	Insertion (intron variant)	not provided	GBenign
Select item 1273345	NM_001253384.2(RPL15):c.361-25T>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228622	NM_001253384.2(RPL15):c.361-24T>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281635	NM_001253384.2(RPL15):c.361-23T>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328730	NM_001253384.2(RPL15):c.361-22T>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259048	NM_001253384.2(RPL15):c.406C>T (p.Arg136Trp)	NKIRAS1, RPL15 (R136W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1238827	NM_001253384.2(RPL15):c.*17G>A	NKIRAS1, RPL15	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 23