ClinVar for MedGen (Select 907372) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688922	NM_014314.4(RIGI):c.877G>C (p.Val293Leu)	RIGI (V145L +4 more)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2 +1 more	GUncertain significance
Select item 1341799	NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu)	RIGI (S411L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2 +1 more	GUncertain significance
Select item 1255473	NM_014314.4(RIGI):c.1481-21dup	RIGI	Duplication (intron variant)	Singleton-Merten syndrome 2	GBenign
Select item 1169347	NM_014314.4(RIGI):c.2400A>C (p.Val800=)	RIGI	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 2 +2 more	GBenign
Select item 1168118	NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu)	RIGI (D377E +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1166894	NM_014314.4(RIGI):c.1376-21dup	RIGI	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1166851	NM_014314.4(RIGI):c.2337+11G>A	RIGI	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1057374	NM_014314.4(RIGI):c.816dup (p.Val273fs)	RIGI (V125fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1039146	NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr)	RIGI (D853Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 932023	NM_014314.4(RIGI):c.396_399del (p.Asn133fs)	RIGI (N133fs)	Microsatellite (frameshift variant)	Singleton-Merten syndrome 2 +1 more	GUncertain significance
Select item 931785	NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp)	RIGI (E621D)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2	GUncertain significance
Select item 931225	NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu)	RIGI (I790L)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2 +1 more	GUncertain significance
Select item 802476	NM_014314.4(RIGI):c.1529A>T (p.Glu510Val)	RIGI (E510V)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2	GLikely pathogenic
Select item 786134	NM_014314.4(RIGI):c.1737C>T (p.Phe579=)	RIGI	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 2 +1 more	GBenign
Select item 719465	NM_014314.4(RIGI):c.734A>G (p.Asn245Ser)	RIGI (N245S)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2 +1 more	GBenign/Likely benign
Select item 713116	NM_014314.4(RIGI):c.1059C>T (p.Asn353=)	RIGI	Single nucleotide variant (synonymous variant)	Singleton-Merten syndrome 2 +1 more	GBenign
Select item 189345	NM_014314.4(RIGI):c.803G>T (p.Cys268Phe)	RIGI (C268F)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2	GPathogenic
Select item 189344	NM_014314.4(RIGI):c.1118A>C (p.Glu373Ala)	RIGI (E373A)	Single nucleotide variant (missense variant)	Singleton-Merten syndrome 2	GPathogenic