MRPL17[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +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 3234352	NM_022061.4(MRPL17):c.408T>A (p.Pro136=)	MRPL17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3295968	NM_022061.4(MRPL17):c.314C>G (p.Thr105Arg)	MRPL17 (T105R)	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 3295967	NM_022061.4(MRPL17):c.307G>A (p.Gly103Ser)	MRPL17 (G103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295969	NM_022061.4(MRPL17):c.176T>C (p.Leu59Pro)	MRPL17 (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295966	NM_022061.4(MRPL17):c.164A>G (p.Tyr55Cys)	MRPL17 (Y55C)	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 3295970	NM_022061.4(MRPL17):c.23C>T (p.Ala8Val)	MRPL17 (A8V)	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	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +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	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +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)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 35