ClinVar for MedGen (Select 924419) - ClinVar

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

Links from MedGen

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362724	NM_016120.4(RLIM):c.1529G>A (p.Arg510Gln)	RLIM (R510Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2734069	NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr)	REN	Duplication (inframe_insertion)	Intellectual disability, X-linked 61 +1 more	GUncertain significance
Select item 2663272	NM_016120.4(RLIM):c.1508C>T (p.Ser503Leu)	RLIM (S503L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2585183	NM_016120.4(RLIM):c.1358G>A (p.Ser453Asn)	RLIM (S453N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2500702	NM_016120.4(RLIM):c.74G>T (p.Arg25Leu)	RLIM (R25L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2444076	NM_016120.4(RLIM):c.1115G>A (p.Arg372Gln)	RLIM (R372Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2435439	NM_016120.4(RLIM):c.826T>C (p.Ser276Pro)	RLIM (S276P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2435438	NM_016120.4(RLIM):c.1401_1412del (p.Ser473_Ser476del)	RLIM	Deletion (inframe_deletion)	Intellectual disability, X-linked 61	GUncertain significance
Select item 2435437	NM_016120.4(RLIM):c.507A>C (p.Glu169Asp)	RLIM (E169D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 1709208	NM_016120.4(RLIM):c.1311G>A (p.Met437Ile)	RLIM (M437I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 1333443	NM_016120.4(RLIM):c.1490A>G (p.Asn497Ser)	RLIM (N497S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 1184531	NM_016120.4(RLIM):c.992G>A (p.Gly331Glu)	RLIM (G331E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
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 992873	NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)	RLIM (Y44C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 979167	NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys)	RLIM (Y421C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
Select item 635529	NM_016120.4(RLIM):c.1364C>A (p.Ser455Tyr)	RLIM (S455Y)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GUncertain significance
Select item 598940	NM_016120.4(RLIM):c.1729T>C (p.Tyr577His)	RLIM (Y577H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
Select item 585245	NM_016120.4(RLIM):c.1831C>T (p.Arg611Cys)	RLIM (R611C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 585244	NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)	RLIM (R365C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 585243	NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)	RLIM (D598N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61 +1 more	GPathogenic/Likely pathogenic
Select item 547086	NM_016120.4(RLIM):c.223C>G (p.Pro75Ala)	RLIM (P75A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61 +1 more	GConflicting classifications of pathogenicity
Select item 253089	NM_016120.4(RLIM):c.1795C>T (p.Arg599Cys)	RLIM (R599C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GPathogenic
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 253087	NM_016120.4(RLIM):c.1760C>G (p.Pro587Arg)	RLIM (P587R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GPathogenic
Select item 156224	NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)	RLIM (Y356C)	Single nucleotide variant (missense variant)	Global developmental delay	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 MedGen

Items: 25