Related gene-specific medical variations for Gene (Select 405754) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276426	NM_207582.3(ERVFRD-1):c.596C>T (p.Ser199Leu)	ERVFRD-1, SMIM13 (S199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276425	NM_207582.3(ERVFRD-1):c.620T>C (p.Phe207Ser)	ERVFRD-1, SMIM13 (F207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090383	NM_207582.3(ERVFRD-1):c.770T>C (p.Leu257Ser)	ERVFRD-1, SMIM13 (L257S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090382	NM_207582.3(ERVFRD-1):c.571C>T (p.Arg191Trp)	ERVFRD-1, SMIM13 (R191W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090381	NM_207582.3(ERVFRD-1):c.401G>T (p.Gly134Val)	ERVFRD-1, SMIM13 (G134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090380	NM_207582.3(ERVFRD-1):c.310C>T (p.Arg104Cys)	ERVFRD-1, SMIM13 (R104C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090379	NM_207582.3(ERVFRD-1):c.209C>T (p.Ala70Val)	ERVFRD-1, SMIM13 (A70V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621357	NM_207582.3(ERVFRD-1):c.182C>T (p.Ser61Leu)	ERVFRD-1, SMIM13 (S61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558598	NM_207582.3(ERVFRD-1):c.374T>C (p.Ile125Thr)	ERVFRD-1, SMIM13 (I125T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475456	NM_207582.3(ERVFRD-1):c.674C>T (p.Ala225Val)	ERVFRD-1, SMIM13 (A225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462961	NM_207582.3(ERVFRD-1):c.785T>C (p.Ile262Thr)	ERVFRD-1, SMIM13 (I262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406796	NM_207582.3(ERVFRD-1):c.806T>C (p.Ile269Thr)	ERVFRD-1, SMIM13 (I269T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388330	NM_207582.3(ERVFRD-1):c.554T>G (p.Leu185Trp)	ERVFRD-1, SMIM13 (L185W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367924	NM_207582.3(ERVFRD-1):c.347A>G (p.Asn116Ser)	ERVFRD-1, SMIM13 (N116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342393	NM_207582.3(ERVFRD-1):c.232T>G (p.Trp78Gly)	ERVFRD-1, SMIM13 (W78G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303169	NM_207582.3(ERVFRD-1):c.701G>A (p.Arg234Gln)	ERVFRD-1, SMIM13 (R234Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286824	NM_207582.3(ERVFRD-1):c.1463G>T (p.Gly488Val)	ERVFRD-1, SMIM13 (G488V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257666	NM_207582.3(ERVFRD-1):c.523C>T (p.Pro175Ser)	ERVFRD-1, SMIM13 (P175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245116	NM_207582.3(ERVFRD-1):c.629C>G (p.Ala210Gly)	ERVFRD-1, SMIM13 (A210G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222539	NM_207582.3(ERVFRD-1):c.53G>A (p.Arg18His)	ERVFRD-1, SMIM13 (R18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 20