ClinVar for MedGen (Select 416526) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435436	NM_018993.4(RIN2):c.2492del (p.Pro831fs)	RIN2 (P625fs +2 more)	Deletion (frameshift variant)	RIN2 syndrome	GUncertain significance
Select item 2435435	NM_018993.4(RIN2):c.1555G>C (p.Ala519Pro)	RIN2 (A313P +2 more)	Single nucleotide variant (missense variant)	RIN2 syndrome	GUncertain significance
Select item 1550777	NM_018993.4(RIN2):c.159-17G>A	RIN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1447737	NM_018993.4(RIN2):c.1019A>G (p.His340Arg)	RIN2 (H340R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1327956	NM_018993.4(RIN2):c.899G>A (p.Gly300Asp)	RIN2 (G300D +2 more)	Single nucleotide variant (missense variant)	RIN2 syndrome	GLikely benign
Select item 1282512	NM_018993.4(RIN2):c.2201-47G>A	RIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1187886	NM_018993.4(RIN2):c.41G>A (p.Arg14Gln)	RIN2 (R14Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 804430	NM_018993.4(RIN2):c.277_278dup (p.His94fs)	RIN2 (H94fs +1 more)	Microsatellite (frameshift variant +1 more)	RIN2 syndrome	GLikely pathogenic
Select item 590794	NM_018993.4(RIN2):c.2104dup (p.Leu702fs)	RIN2 (L702fs +2 more)	Duplication (frameshift variant)	RIN2 syndrome	GLikely pathogenic
Select item 509960	NM_018993.4(RIN2):c.1851C>T (p.Ala617=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2 syndrome +1 more	GBenign/Likely benign
Select item 451390	NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys)	RIN2 (S800C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 436538	NM_018993.4(RIN2):c.2436C>T (p.Tyr812=)	RIN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 421543	NM_018993.4(RIN2):c.797A>T (p.Asn266Ile)	RIN2 (N266I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 390346	NM_018993.4(RIN2):c.85G>A (p.Gly29Arg)	RIN2 (G29R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 374444	NM_018993.4(RIN2):c.1642G>A (p.Val548Met)	RIN2 (V548M +2 more)	Single nucleotide variant (missense variant)	RIN2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 257654	NM_018993.4(RIN2):c.1818C>T (p.His606=)	RIN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 212056	NM_018993.4(RIN2):c.923C>A (p.Pro308Gln)	RIN2 (P308Q +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 212055	NM_018993.4(RIN2):c.84C>T (p.Ile28=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 137627	NM_018993.4(RIN2):c.1731dup (p.Ile578fs)	RIN2 (I578fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 36923	NM_018993.4(RIN2):c.1914_1915del (p.Glu638fs)	RIN2 (E638fs +2 more)	Deletion (frameshift variant)	RIN2 syndrome	GPathogenic
Select item 1296	NM_018993.4(RIN2):c.1731del (p.Ile578fs)	RIN2 (I578fs +2 more)	Deletion (frameshift variant)	RIN2 syndrome	GPathogenic

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Items: 21