"Ambry Genetics"[submitter] AND "RLIM"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2409011	NM_016120.4(RLIM):c.1864A>G (p.Ser622Gly)	RLIM (S622G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366102	NM_016120.4(RLIM):c.1691A>G (p.Asn564Ser)	RLIM (N564S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154748	NM_016120.4(RLIM):c.1520G>A (p.Gly507Asp)	RLIM (G507D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154747	NM_016120.4(RLIM):c.1436C>G (p.Ser479Cys)	RLIM (S479C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314579	NM_016120.4(RLIM):c.1357A>G (p.Ser453Gly)	RLIM (S453G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373865	NM_016120.4(RLIM):c.1343G>A (p.Gly448Asp)	RLIM (G448D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3314580	NM_016120.4(RLIM):c.1328G>A (p.Arg443Gln)	RLIM (R443Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209735	NM_016120.4(RLIM):c.1321G>C (p.Glu441Gln)	RLIM (E441Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207485	NM_016120.4(RLIM):c.1271G>A (p.Ser424Asn)	RLIM (S424N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332234	NM_016120.4(RLIM):c.1172A>G (p.Asn391Ser)	RLIM (N391S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 253088	NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)	RLIM (R387C)	Single nucleotide variant (missense variant)	Non-syndromic X-linked intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 2557647	NM_016120.4(RLIM):c.925T>C (p.Ser309Pro)	RLIM (S309P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030534	NM_016120.4(RLIM):c.736A>G (p.Ile246Val)	RLIM (I246V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61 +1 more	GUncertain significance
Select item 2273385	NM_016120.4(RLIM):c.703A>G (p.Met235Val)	RLIM (M235V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207068	NM_016120.4(RLIM):c.587C>T (p.Thr196Ile)	RLIM (T196I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3154750	NM_016120.4(RLIM):c.586A>G (p.Thr196Ala)	RLIM (T196A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521217	NM_016120.4(RLIM):c.539G>T (p.Arg180Leu)	RLIM (R180L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154749	NM_016120.4(RLIM):c.512A>G (p.Asn171Ser)	RLIM (N171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2660928	NM_016120.4(RLIM):c.292A>C (p.Ile98Leu)	RLIM (I98L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign