MRPL16[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619096	NM_017840.4(MRPL16):c.620G>C (p.Arg207Pro)	MRPL16 (R207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224291	NM_017840.4(MRPL16):c.620G>A (p.Arg207His)	MRPL16 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445686	NM_017840.4(MRPL16):c.619C>T (p.Arg207Cys)	MRPL16 (R207C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3206928	NM_017840.4(MRPL16):c.593T>C (p.Met198Thr)	MRPL16 (M198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295964	NM_017840.4(MRPL16):c.587A>G (p.Glu196Gly)	MRPL16 (E196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371491	NM_017840.4(MRPL16):c.549G>C (p.Leu183Phe)	MRPL16 (L183F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357264	NM_017840.4(MRPL16):c.542A>G (p.His181Arg)	MRPL16 (H181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487096	NM_017840.4(MRPL16):c.514G>A (p.Val172Met)	MRPL16 (V172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537027	NM_017840.4(MRPL16):c.407T>C (p.Val136Ala)	MRPL16 (V136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519755	NM_017840.4(MRPL16):c.386A>G (p.Lys129Arg)	MRPL16 (K129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206914	NM_017840.4(MRPL16):c.364T>C (p.Trp122Arg)	MRPL16 (W122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295965	NM_017840.4(MRPL16):c.338T>C (p.Met113Thr)	MRPL16 (M113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206912	NM_017840.4(MRPL16):c.317G>A (p.Arg106His)	MRPL16 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375062	NM_017840.4(MRPL16):c.298G>A (p.Gly100Ser)	MRPL16 (G100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206901	NM_017840.4(MRPL16):c.196C>T (p.Pro66Ser)	MRPL16 (P66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542529	NM_017840.4(MRPL16):c.195A>T (p.Glu65Asp)	MRPL16 (E65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340454	NM_017840.4(MRPL16):c.141A>T (p.Lys47Asn)	MRPL16 (K47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295962	NM_017840.4(MRPL16):c.73C>T (p.Pro25Ser)	MRPL16 (P25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206904	NM_017840.4(MRPL16):c.19C>T (p.Arg7Cys)	MRPL16 (R7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 28