Related gene-specific medical variations for Gene (Select 285613) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313579	NM_173828.5(RELL2):c.802G>A (p.Gly268Arg)	FCHSD1, RELL2 (G268R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313577	NM_173828.5(RELL2):c.425C>T (p.Pro142Leu)	FCHSD1, RELL2 (P142L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3313576	NM_173828.5(RELL2):c.896G>A (p.Gly299Glu)	FCHSD1, RELL2 (G299E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152942	NM_173828.5(RELL2):c.604G>A (p.Gly202Arg)	FCHSD1, RELL2 (G202R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152941	NM_173828.5(RELL2):c.386C>T (p.Ala129Val)	FCHSD1, RELL2 (A129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590687	NM_173828.5(RELL2):c.671C>A (p.Pro224His)	FCHSD1, RELL2 (P224H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520823	NM_173828.5(RELL2):c.450G>T (p.Lys150Asn)	FCHSD1, RELL2 (K150N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456343	NM_173828.5(RELL2):c.775T>C (p.Ser259Pro)	FCHSD1, RELL2 (S259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363814	NM_173828.5(RELL2):c.589G>T (p.Gly197Trp)	FCHSD1, RELL2 (G197W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361657	NM_173828.5(RELL2):c.160C>T (p.Pro54Ser)	LOC129994872, RELL2 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360498	NM_173828.5(RELL2):c.730G>A (p.Asp244Asn)	FCHSD1, RELL2 (D244N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323765	NM_173828.5(RELL2):c.691G>A (p.Val231Ile)	FCHSD1, RELL2 (V231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314748	NM_173828.5(RELL2):c.334A>G (p.Ser112Gly)	FCHSD1, RELL2 (S112G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294758	NM_173828.5(RELL2):c.434G>A (p.Arg145His)	FCHSD1, RELL2 (R145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance