"Ambry Genetics"[submitter] AND "LOC550113"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2221307	NM_207407.2(TMPRSS11F):c.1286G>A (p.Arg429Gln)	TMPRSS11F, LOC550113 (R429Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252563	NM_207407.2(TMPRSS11F):c.980T>C (p.Val327Ala)	TMPRSS11F, LOC550113 (V327A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333724	NM_207407.2(TMPRSS11F):c.973A>G (p.Thr325Ala)	TMPRSS11F, LOC550113 (T325A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323126	NM_207407.2(TMPRSS11F):c.811G>A (p.Ala271Thr)	LOC550113, TMPRSS11F (A271T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211986	NM_207407.2(TMPRSS11F):c.794C>T (p.Ala265Val)	TMPRSS11F, LOC550113 (A265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543527	NM_207407.2(TMPRSS11F):c.791G>A (p.Gly264Asp)	LOC550113, TMPRSS11F (G264D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277765	NM_207407.2(TMPRSS11F):c.724T>C (p.Trp242Arg)	TMPRSS11F, LOC550113 (W242R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488684	NM_207407.2(TMPRSS11F):c.680T>C (p.Ile227Thr)	LOC550113, TMPRSS11F (I227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483726	NM_207407.2(TMPRSS11F):c.637G>T (p.Ala213Ser)	LOC550113, TMPRSS11F (A213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589238	NM_207407.2(TMPRSS11F):c.610C>G (p.Gln204Glu)	LOC550113, TMPRSS11F (Q204E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2494302	NM_207407.2(TMPRSS11F):c.537G>T (p.Arg179Ser)	LOC550113, TMPRSS11F (R179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312116	NM_207407.2(TMPRSS11F):c.515C>G (p.Pro172Arg)	TMPRSS11F, LOC550113 (P172R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance