Related gene-specific medical variations for Gene (Select 9191) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081258	NM_032998.3(DEDD):c.938T>C (p.Met313Thr)	DEDD, NIT1 (M313T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081257	NM_032998.3(DEDD):c.83G>A (p.Arg28His)	DEDD, NIT1 (R28H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081256	NM_032998.3(DEDD):c.520G>C (p.Gly174Arg)	DEDD, NIT1 (G174R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081255	NM_032998.3(DEDD):c.373T>C (p.Tyr125His)	DEDD, NIT1 (Y125H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081254	NM_032998.3(DEDD):c.301G>A (p.Val101Ile)	DEDD, NIT1 (V101I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081253	NM_032998.3(DEDD):c.247C>G (p.Arg83Gly)	DEDD, NIT1 (R83G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2562638	NM_032998.3(DEDD):c.19C>T (p.Arg7Trp)	DEDD, NIT1 (R7W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527394	NM_032998.3(DEDD):c.117C>G (p.His39Gln)	DEDD, NIT1 (H39Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481115	NM_032998.3(DEDD):c.682C>T (p.Arg228Cys)	DEDD, NIT1 (R228C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303351	NM_032998.3(DEDD):c.205T>G (p.Leu69Val)	DEDD, NIT1 (L69V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance