"Ambry Genetics"[submitter] AND "SEC14L6"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2204190	NM_001193336.4(SEC14L6):c.1109G>C (p.Ser370Thr)	SEC14L6 (Q259H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323845	NM_001193336.4(SEC14L6):c.1036A>G (p.Met346Val)	SEC14L6 (M346V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591094	NM_001193336.4(SEC14L6):c.980G>A (p.Arg327Gln)	SEC14L6 (R327Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369747	NM_001193336.4(SEC14L6):c.944G>A (p.Gly315Asp)	SEC14L6 (G261D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2563944	NM_001193336.4(SEC14L6):c.889C>A (p.Leu297Met)	SEC14L6 (L243M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292004	NM_001193336.4(SEC14L6):c.857G>A (p.Arg286His)	SEC14L6 (R232H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350690	NM_001193336.4(SEC14L6):c.814A>G (p.Lys272Glu)	SEC14L6 (K218E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395954	NM_001193336.4(SEC14L6):c.781G>T (p.Gly261Trp)	SEC14L6 (G207W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391331	NM_001193336.4(SEC14L6):c.725G>A (p.Gly242Glu)	SEC14L6 (G242E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375996	NM_001193336.4(SEC14L6):c.715G>A (p.Val239Met)	SEC14L6 (V239M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477310	NM_001193336.4(SEC14L6):c.670T>C (p.Trp224Arg)	SEC14L6 (W170R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598104	NM_001193336.4(SEC14L6):c.640C>A (p.Arg214Ser)	SEC14L6 (R214S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507496	NM_001193336.4(SEC14L6):c.598G>A (p.Val200Ile)	SEC14L6 (V146I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520510	NM_001193336.4(SEC14L6):c.595G>T (p.Ala199Ser)	SEC14L6 (A145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486061	NM_001193336.4(SEC14L6):c.353A>C (p.Gln118Pro)	SEC14L6 (Q64P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295945	NM_001193336.4(SEC14L6):c.278G>A (p.Gly93Asp)	SEC14L6 (G39D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465577	NM_001193336.4(SEC14L6):c.205G>C (p.Ala69Pro)	SEC14L6 (A69P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296269	NM_001193336.4(SEC14L6):c.193C>A (p.Gln65Lys)	SEC14L6 (Q65K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319633	NM_001193336.4(SEC14L6):c.188G>A (p.Arg63Gln)	SEC14L6 (R63Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603559	NM_001193336.4(SEC14L6):c.162C>A (p.Asp54Glu)	SEC14L6 (D54E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588711	NM_001193336.4(SEC14L6):c.138C>G (p.Ser46Arg)	SEC14L6 (S46R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456973	NM_001193336.4(SEC14L6):c.134G>A (p.Arg45Gln)	SEC14L6 (R45Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593409	NM_001193336.4(SEC14L6):c.119G>A (p.Arg40His)	SEC14L6 (R40H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369903	NM_001193336.4(SEC14L6):c.86C>T (p.Ala29Val)	SEC14L6 (A29V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208096	NM_001193336.4(SEC14L6):c.32C>T (p.Ser11Leu)	SEC14L6 (S11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25