MRPL4[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 2235392	NM_015956.3(MRPL4):c.119G>A (p.Ser40Asn)	MRPL4 (S40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232545	NM_015956.3(MRPL4):c.401G>C (p.Gly134Ala)	MRPL4 (G134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407443	NM_015956.3(MRPL4):c.509G>A (p.Arg170Gln)	MRPL4 (R170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207782	NM_015956.3(MRPL4):c.592G>A (p.Gly198Arg)	MRPL4 (G198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403106	NM_015956.3(MRPL4):c.740-13A>C	MRPL4	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 403107	NM_015956.3(MRPL4):c.740-8G>C	MRPL4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic