MRPL27[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2288991	NM_016504.3(MRPL27):c.397G>A (p.Val133Met)	MRPL27 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255149	NM_016504.3(MRPL27):c.305A>T (p.Glu102Val)	MRPL27 (E102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207254	NM_016504.3(MRPL27):c.284G>A (p.Gly95Glu)	MRPL27 (G95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555452	NM_016504.3(MRPL27):c.247G>T (p.Val83Phe)	MRPL27 (V83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207244	NM_016504.3(MRPL27):c.179A>G (p.Tyr60Cys)	MRPL27 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295995	NM_016504.3(MRPL27):c.178T>G (p.Tyr60Asp)	MRPL27 (Y60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264179	NM_016504.3(MRPL27):c.127G>A (p.Gly43Ser)	MRPL27 (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207264	NM_016504.3(MRPL27):c.98A>G (p.Lys33Arg)	MRPL27 (K33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235878	NM_016504.3(MRPL27):c.73G>A (p.Ala25Thr)	MRPL27 (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462527	NM_016504.3(MRPL27):c.71C>T (p.Thr24Ile)	MRPL27 (T24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588630	NM_016504.3(MRPL27):c.19G>T (p.Ala7Ser)	LOC130061162, MRPL27 (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269886	NM_016504.3(MRPL27):c.19G>A (p.Ala7Thr)	LOC130061162, MRPL27 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692406	Single allele	ACSF2, COL1A1 +8 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 24