Related gene-specific medical variations for Gene (Select 54453) - ClinVar

	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 1809301	GRCh37/hg19 20p11.23(chr20:19767025-19892547)x1	RIN2	Copy number loss	not provided	GUncertain significance
Select item 1676376	NM_018993.4(RIN2):c.-36-2972CTT[8]	RIN2	Microsatellite	not provided	GLikely benign
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 591323	NM_018993.4(RIN2):c.916_917insGC (p.Ser306fs)	RIN2 (S306fs +2 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 591322	NM_018993.4(RIN2):c.928_929del (p.Arg310fs)	RIN2 (R359fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591209	NM_018993.4(RIN2):c.-36-2791del	RIN2 (T36fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591062	NM_018993.4(RIN2):c.923dup (p.Pro309fs)	RIN2 (P358fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance

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