Related gene-specific medical variations for Gene (Select 6155) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068075	NM_000988.5(RPL27):c.40C>G (p.Leu14Val)	LOC126862570, RPL27 (L14V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 16	GUncertain significance
Select item 2805202	NM_000988.5(RPL27):c.81+7G>C	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2779251	NM_000988.5(RPL27):c.43G>T (p.Ala15Ser)	LOC126862570, RPL27 (A15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632200	NM_000988.5(RPL27):c.67G>T (p.Ala23Ser)	LOC126862570, RPL27 (A23S)	Single nucleotide variant (missense variant +1 more)	RPL27-related disorder	GUncertain significance
Select item 2631045	NM_000988.5(RPL27):c.6C>T (p.Gly2=)	LOC126862570, RPL27	Single nucleotide variant (synonymous variant +1 more)	RPL27-related disorder	GUncertain significance
Select item 2570988	NM_000988.5(RPL27):c.81+68G>A	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2406638	NM_000988.5(RPL27):c.61C>G (p.Arg21Gly)	LOC126862570, RPL27 (R21G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2008104	NM_000988.5(RPL27):c.37G>C (p.Val13Leu)	LOC126862570, RPL27 (V13L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1338117	NM_000988.5(RPL27):c.33G>A (p.Val11=)	LOC126862570, RPL27	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1292753	NM_000988.5(RPL27):c.81+135T>C	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270607	NM_000988.5(RPL27):c.-25del	LOC126862570, RPL27	Deletion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1251530	NM_000988.5(RPL27):c.81+101G>A	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240832	NM_000988.5(RPL27):c.-20G>C	RPL27, LOC126862570	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1182827	NM_000988.5(RPL27):c.-3+33C>T	RPL27, LOC126862570	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 744056	NM_000988.5(RPL27):c.75C>T (p.Ile25=)	LOC126862570, RPL27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 417776	NM_000988.5(RPL27):c.-2-1G>A	RPL27, LOC126862570	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 16	GPathogenic