RPL6[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59818	GRCh38/hg38 12q24.13(chr12:112303430-112676526)x3	HECTD4, LOC130008808 +5 more	Copy number gain	See cases	GPathogenic
Select item 59819	GRCh38/hg38 12q24.13(chr12:112307532-112722967)x3	HECTD4, LOC130008809 +5 more	Copy number gain	See cases	GPathogenic
Select item 3315215	NM_000970.6(RPL6):c.833C>T (p.Thr278Met)	RPL6 (T167M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616081	NM_000970.6(RPL6):c.785A>C (p.Lys262Thr)	RPL6 (K262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315214	NM_000970.6(RPL6):c.737G>A (p.Arg246His)	RPL6 (R246H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156106	NM_000970.6(RPL6):c.668G>A (p.Arg223Gln)	RPL6 (R112Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334001	NM_000970.6(RPL6):c.665T>A (p.Leu222Gln)	RPL6 (L111Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234700	NM_000970.6(RPL6):c.651C>A (p.Phe217Leu)	RPL6 (F106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156105	NM_000970.6(RPL6):c.506C>T (p.Ala169Val)	RPL6 (A169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156104	NM_000970.6(RPL6):c.466C>T (p.Arg156Cys)	RPL6 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156103	NM_000970.6(RPL6):c.365C>T (p.Pro122Leu)	RPL6 (P11L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244127	NM_000970.6(RPL6):c.349C>T (p.Pro117Ser)	RPL6 (P117S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334000	NM_000970.6(RPL6):c.278C>G (p.Thr93Arg)	RPL6 (T93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481330	NM_000970.6(RPL6):c.60G>C (p.Lys20Asn)	RPL6 (K20N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315213	NM_000970.6(RPL6):c.47C>G (p.Pro16Arg)	RPL6 (P16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156102	NM_000970.6(RPL6):c.32C>T (p.Thr11Ile)	RPL6 (T11I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145960	GRCh38/hg38 12q24.13(chr12:112416863-112426595)x3	PTPN11, RPL6	Copy number gain	See cases	GLikely pathogenic
Select item 882155	NM_002834.3(PTPN11):c.-317C>G	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 695270	NC_000012.12:g.112418795C>T	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	RASopathy +1 more	GBenign/Likely benign
Select item 882403	NM_002834.3(PTPN11):c.-291G>A	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 307219	NM_002834.3(PTPN11):c.-287G>C	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 1 +2 more	GBenign/Likely benign
Select item 1341029	GRCh37/hg19 12q24.13(chr12:112731318-113145852)x3	HECTD4, PTPN11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26