MRPL17[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 2310983	NM_022061.4(MRPL17):c.514A>C (p.Thr172Pro)	MRPL17 (T172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354019	NM_022061.4(MRPL17):c.489C>G (p.Ser163Arg)	MRPL17 (S163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379537	NM_022061.4(MRPL17):c.369C>G (p.Ile123Met)	MRPL17 (I123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206952	NM_022061.4(MRPL17):c.350G>A (p.Arg117Gln)	MRPL17 (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481885	NM_022061.4(MRPL17):c.308G>A (p.Gly103Asp)	MRPL17 (G103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206935	NM_022061.4(MRPL17):c.119A>G (p.Glu40Gly)	MRPL17 (E40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275566	NM_022061.4(MRPL17):c.89G>A (p.Arg30Gln)	MRPL17 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272319	NM_022061.4(MRPL17):c.52A>T (p.Met18Leu)	MRPL17 (M18L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463333	NM_022061.4(MRPL17):c.33T>A (p.His11Gln)	MRPL17 (H11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345714	NM_022061.4(MRPL17):c.32A>G (p.His11Arg)	MRPL17 (H11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325172	NM_022061.4(MRPL17):c.4C>T (p.Arg2Trp)	MRPL17 (R2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 685541	GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3	DCHS1, ILK +5 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic

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Items: 29