Related gene-specific medical variations for Gene (Select 10129) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643729	NM_023037.3(FRY):c.7260G>A (p.Ser2420=)	FRY, LOC126861731	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616362	NM_023037.3(FRY):c.4510G>A (p.Val1504Met)	FRY, LOC126861730 (V1504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475353	NM_023037.3(FRY):c.4568G>A (p.Ser1523Asn)	FRY, LOC126861730 (S1523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251005	NM_023037.3(FRY):c.7258T>G (p.Ser2420Ala)	FRY, LOC126861731 (S2420A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527760	GRCh37/hg19 13q13.1(chr13:32668491-32709676)	FRY	Copy number loss	not specified	GLikely pathogenic
Select item 768609	NM_023037.3(FRY):c.4551C>T (p.Tyr1517=)	FRY, LOC126861730	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758265	NM_023037.3(FRY):c.4522G>A (p.Val1508Ile)	FRY, LOC126861730 (V1508I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720171	NM_023037.3(FRY):c.7345A>G (p.Thr2449Ala)	FRY, LOC126861731 (T2449A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720170	NM_023037.3(FRY):c.7246-4G>A	FRY, LOC126861731	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714096	NM_023037.3(FRY):c.4521C>T (p.Ile1507=)	FRY, LOC126861730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign