Related gene-specific medical variations for Gene (Select 4773) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299491	NM_012340.5(NFATC2):c.2028C>G (p.His676Gln)	LOC126863050, NFATC2 (H676Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196511	NM_012340.5(NFATC2):c.2000G>A (p.Arg667Gln)	LOC126863050, NFATC2 (R667Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591574	NM_012340.5(NFATC2):c.1952G>A (p.Arg651His)	LOC126863050, NFATC2 (R432H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443845	NM_012340.5(NFATC2):c.2023_2026del (p.Tyr675fs)	LOC126863050, NFATC2 (Y456fs +2 more)	Microsatellite (frameshift variant)	Joint contractures, osteochondromas, and B-cell lymphoma	GPathogenic
Select item 2337249	NM_012340.5(NFATC2):c.31G>A (p.Asp11Asn)	LOC130066176, NFATC2 (D11N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312799	NM_012340.5(NFATC2):c.1976A>G (p.Tyr659Cys)	LOC126863050, NFATC2 (Y440C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288373	NM_012340.5(NFATC2):c.40G>C (p.Asp14His)	LOC130066176, NFATC2 (D14H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2205039	NM_012340.5(NFATC2):c.1937G>A (p.Arg646Gln)	LOC126863050, NFATC2 (R427Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance