RPL7L1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2402862	NM_001366481.3(RPL7L1):c.65C>T (p.Pro22Leu)	RPL7L1 (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234704	NM_001366481.3(RPL7L1):c.107A>G (p.Lys36Arg)	RPL7L1 (K36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156110	NM_001366481.3(RPL7L1):c.130C>T (p.Leu44Phe)	RPL7L1 (L44F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227965	NM_001366481.3(RPL7L1):c.197A>G (p.His66Arg)	RPL7L1 (H66R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459953	NM_001366481.3(RPL7L1):c.209G>A (p.Arg70Gln)	RPL7L1 (R70Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156111	NM_001366481.3(RPL7L1):c.217C>T (p.Arg73Cys)	RPL7L1 (R73C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570548	NM_001366481.3(RPL7L1):c.218G>A (p.Arg73His)	RPL7L1 (R73H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299508	NM_001366481.3(RPL7L1):c.269T>G (p.Leu90Trp)	RPL7L1 (L90W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346915	NM_001366481.3(RPL7L1):c.281A>G (p.His94Arg)	RPL7L1 (H94R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513853	NM_001366481.3(RPL7L1):c.302G>A (p.Arg101His)	RPL7L1 (R101H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156112	NM_001366481.3(RPL7L1):c.304A>G (p.Ile102Val)	RPL7L1 (I102V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363078	NM_001366481.3(RPL7L1):c.307G>A (p.Glu103Lys)	RPL7L1 (E103K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376673	NM_001366481.3(RPL7L1):c.358C>T (p.Arg120Cys)	RPL7L1 (R120C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465620	NM_001366481.3(RPL7L1):c.359G>A (p.Arg120His)	RPL7L1 (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326844	NM_001366481.3(RPL7L1):c.443C>T (p.Thr148Ile)	RPL7L1 (T148I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469819	NM_001366481.3(RPL7L1):c.453T>G (p.Phe151Leu)	RPL7L1 (F151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315224	NM_001366481.3(RPL7L1):c.458A>C (p.Asn153Thr)	RPL7L1 (N153T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591031	NM_001366481.3(RPL7L1):c.536A>G (p.Asn179Ser)	RPL7L1 (N179S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473458	NM_001366481.3(RPL7L1):c.725A>G (p.Tyr242Cys)	RPL7L1 (Y242C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315223	NM_001366481.3(RPL7L1):c.758A>G (p.Gln253Arg)	RPL7L1 (Q253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 31