ClinVar for Gene (Select 6128) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 1341029	GRCh37/hg19 12q24.13(chr12:112731318-113145852)x3	HECTD4, PTPN11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 882403	NM_002834.3(PTPN11):c.-291G>A	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 882155	NM_002834.3(PTPN11):c.-317C>G	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	LEOPARD 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 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 307219	NM_002834.3(PTPN11):c.-287G>C	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GBenign/Likely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
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 145960	GRCh38/hg38 12q24.13(chr12:112416863-112426595)x3	PTPN11, RPL6	Copy number gain	See cases	GLikely pathogenic
Select item 59819	GRCh38/hg38 12q24.13(chr12:112307532-112722967)x3	HECTD4, LOC130008809 +5 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

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Links from Gene

Items: 26