"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168035	NM_014314.4(RIGI):c.2709A>G (p.Thr903=)	RIGI	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1169347	NM_014314.4(RIGI):c.2400A>C (p.Val800=)	RIGI	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2688400	NM_014314.4(RIGI):c.2337+104C>T	RIGI	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1166851	NM_014314.4(RIGI):c.2337+11G>A	RIGI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2688315	NM_014314.4(RIGI):c.2186-23C>A	RIGI	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688470	NM_014314.4(RIGI):c.2014+78T>C	RIGI	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688316	NM_014314.4(RIGI):c.1924-25A>G	RIGI	Single nucleotide variant (intron variant)	not specified	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 2688507	NM_014314.4(RIGI):c.571+37A>G	RIGI	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1170307	NM_014314.4(RIGI):c.19C>T (p.Arg7Cys)	LOC130001628, RIGI (R7C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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

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Items: 21