CRLS1[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2214630	NM_019095.6(CRLS1):c.4C>A (p.Leu2Ile)	CRLS1 (L2I)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2226795	NM_019095.6(CRLS1):c.41T>G (p.Leu14Arg)	CRLS1 (L14R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 727712	NM_019095.6(CRLS1):c.54T>G (p.Ala18=)	CRLS1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2226039	NM_019095.6(CRLS1):c.62C>T (p.Pro21Leu)	CRLS1 (P21L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2227102	NM_019095.6(CRLS1):c.65G>A (p.Gly22Glu)	CRLS1 (G22E)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3269559	NM_019095.6(CRLS1):c.74C>G (p.Pro25Arg)	CRLS1 (P25R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2269462	NM_019095.6(CRLS1):c.85C>A (p.Arg29Ser)	CRLS1 (R29S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2388012	NM_019095.6(CRLS1):c.238G>A (p.Ala80Thr)	CRLS1 (A80T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2533704	NM_019095.6(CRLS1):c.239C>T (p.Ala80Val)	CRLS1 (A80V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2484411	NM_019095.6(CRLS1):c.266C>T (p.Ala89Val)	CRLS1 (A89V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3269558	NM_019095.6(CRLS1):c.269C>G (p.Pro90Arg)	CRLS1 (P90R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3077533	NM_019095.6(CRLS1):c.278A>G (p.Gln93Arg)	CRLS1 (Q93R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2324521	NM_019095.6(CRLS1):c.292A>T (p.Ser98Cys)	CRLS1 (S98C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2443703	NM_019095.6(CRLS1):c.326T>A (p.Ile109Asn)	CRLS1 (I109N +1 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 57	GPathogenic
Select item 3077535	NM_019095.6(CRLS1):c.329C>T (p.Pro110Leu)	CRLS1 (P11L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513650	NM_019095.6(CRLS1):c.464G>A (p.Arg155Gln)	CRLS1 (R44Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443704	NM_019095.6(CRLS1):c.515C>A (p.Ala172Asp)	CRLS1 (A172D +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 57	GPathogenic
Select item 2458468	NM_019095.6(CRLS1):c.626T>C (p.Val209Ala)	CRLS1 (V110A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443705	NM_019095.6(CRLS1):c.649C>T (p.Leu217Phe)	CRLS1 (L217F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 57	GPathogenic
Select item 3077536	NM_019095.6(CRLS1):c.718T>C (p.Phe240Leu)	CRLS1 (F129L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570408	NM_019095.6(CRLS1):c.788A>G (p.Asn263Ser)	CRLS1 (N152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077537	NM_019095.6(CRLS1):c.827T>G (p.Phe276Cys)	CRLS1 (F276C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279168	NM_019095.6(CRLS1):c.859A>G (p.Ser287Gly)	CRLS1 (S287G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787574	NM_019095.6(CRLS1):c.867T>C (p.Tyr289=)	CRLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2519809	NM_019095.6(CRLS1):c.869A>T (p.His290Leu)	CRLS1 (H179L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25