ClinVar for Gene (Select 285855) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	KLC4, POLR1C +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 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 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 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 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 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 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 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 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 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)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	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

Links from Gene

Items: 29