Related gene-specific medical variations for Gene (Select 23586) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2909881	NM_014314.4(RIGI):c.54G>C (p.Lys18Asn)	LOC130001628, RIGI (K18N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880353	NM_014314.4(RIGI):c.37C>T (p.Gln13Ter)	LOC130001628, RIGI (Q13*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2823065	NM_014314.4(RIGI):c.4A>G (p.Thr2Ala)	LOC130001628, RIGI (T2A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2720509	NM_014314.4(RIGI):c.57C>G (p.Thr19=)	LOC130001628, RIGI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637889	NC_000009.12:g.32488683T>C	RIGI	Single nucleotide variant	not specified	GBenign
Select item 2637888	NC_000009.12:g.32457531G>A	RIGI	Single nucleotide variant	not specified	GBenign
Select item 2637887	NC_000009.12:g.32457497_32457498insAGAAAA	RIGI	Insertion	not specified	GBenign
Select item 2637884	NC_000009.12:g.32457498_32457502dup	RIGI	Insertion	not specified	GBenign
Select item 2637883	NC_000009.12:g.32457484_32457497A[20]	RIGI	Insertion	not specified	GBenign
Select item 2637882	NC_000009.12:g.32457484_32457497A[19]	RIGI	Insertion	not specified	GBenign
Select item 2637876	NC_000009.12:g.32488239G>C	RIGI	Single nucleotide variant	not specified	GBenign
Select item 2637874	NC_000009.12:g.32491242C>T	RIGI	Single nucleotide variant	not specified	GBenign
Select item 2637872	NC_000009.12:g.32525971C>A	RIGI	Single nucleotide variant	not specified	GBenign
Select item 2637871	NC_000009.12:g.32498293A>G	RIGI	Single nucleotide variant	not specified	GBenign
Select item 2125558	NM_014314.4(RIGI):c.56C>T (p.Thr19Ile)	LOC130001628, RIGI (T19I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013298	NM_014314.4(RIGI):c.65C>A (p.Pro22His)	LOC130001628, RIGI (P22H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917792	NM_014314.4(RIGI):c.9C>G (p.Thr3=)	LOC130001628, RIGI	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1907406	NM_014314.4(RIGI):c.69C>T (p.Thr23=)	LOC130001628, RIGI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1360706	NM_014314.4(RIGI):c.61G>T (p.Asp21Tyr)	LOC130001628, RIGI (D21Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1360246	NM_014314.4(RIGI):c.23G>A (p.Ser8Asn)	LOC130001628, RIGI (S8N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1170307	NM_014314.4(RIGI):c.19C>T (p.Arg7Cys)	LOC130001628, RIGI (R7C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 714773	NM_014314.4(RIGI):c.9C>T (p.Thr3=)	LOC130001628, RIGI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Links from Gene

Items: 23