MRPL47[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 3296036	NM_020409.3(MRPL47):c.748G>A (p.Val250Ile)	MRPL47 (V140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490688	NM_020409.3(MRPL47):c.679G>C (p.Glu227Gln)	MRPL47 (E117Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208192	NM_020409.3(MRPL47):c.665G>A (p.Arg222Gln)	MRPL47 (R112Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296038	NM_020409.3(MRPL47):c.653G>T (p.Arg218Leu)	MRPL47 (R218L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324021	NM_020409.3(MRPL47):c.652C>T (p.Arg218Cys)	MRPL47 (R108C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281137	NM_020409.3(MRPL47):c.587G>C (p.Arg196Thr)	MRPL47 (R196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276515	NM_020409.3(MRPL47):c.580T>C (p.Tyr194His)	MRPL47 (Y194H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529232	NM_020409.3(MRPL47):c.559C>A (p.Pro187Thr)	MRPL47 (P187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296037	NM_020409.3(MRPL47):c.446G>A (p.Arg149Lys)	MRPL47 (R149K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208143	NM_020409.3(MRPL47):c.410A>T (p.Asp137Val)	MRPL47 (D137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386115	NM_020409.3(MRPL47):c.383G>A (p.Ser128Asn)	MRPL47 (S18N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209842	NM_020409.3(MRPL47):c.361C>T (p.Arg121Trp)	MRPL47 (R121W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208135	NM_020409.3(MRPL47):c.331A>G (p.Met111Val)	MRPL47 (M111V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611762	NM_020409.3(MRPL47):c.326G>A (p.Arg109Lys)	MRPL47 (R109K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263444	NM_020409.3(MRPL47):c.89C>A (p.Ala30Asp)	MRPL47 (A30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614874	NM_020409.3(MRPL47):c.55T>C (p.Ser19Pro)	MRPL47 (S19P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512704	NM_020409.3(MRPL47):c.22C>G (p.Leu8Val)	MRPL47 (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2486739	NM_020409.3(MRPL47):c.14G>C (p.Gly5Ala)	MRPL47 (G5A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	MRPL47, DNAJC19 +12 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 638139	GRCh37/hg19 3q26.32-26.33(chr3:178869440-179400345)x3	ZNF639, ACTL6A +7 more	Copy number gain	See cases	GUncertain significance
Select item 562845	GRCh37/hg19 3q26.32-26.33(chr3:178990782-179443371)x3	ZNF639, ACTL6A +5 more	Copy number gain	not provided	GUncertain significance
Select item 443796	GRCh37/hg19 3q26.32-26.33(chr3:178853769-179369934)x3	ACTL6A, GNB4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 49