"Ambry Genetics"[submitter] AND "FAM151A"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373373	NM_176782.3(FAM151A):c.1744G>A (p.Val582Ile)	FAM151A, ACOT11 (V582I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395857	NM_176782.3(FAM151A):c.1694G>A (p.Arg565Gln)	FAM151A, ACOT11 (R565Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304327	NM_176782.3(FAM151A):c.1618G>A (p.Glu540Lys)	ACOT11, FAM151A (E540K)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2295787	NM_176782.3(FAM151A):c.1448A>G (p.Glu483Gly)	FAM151A, ACOT11 (E483G)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2470518	NM_176782.3(FAM151A):c.1417C>G (p.His473Asp)	ACOT11, FAM151A (H473D)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522982	NM_176782.3(FAM151A):c.1342T>C (p.Ser448Pro)	ACOT11, FAM151A (S448P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407710	NM_176782.3(FAM151A):c.1337A>G (p.Lys446Arg)	FAM151A, ACOT11 (K446R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222005	NM_176782.3(FAM151A):c.1313A>C (p.His438Pro)	FAM151A, ACOT11 (H438P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2296849	NM_176782.3(FAM151A):c.1289G>A (p.Arg430His)	ACOT11, FAM151A (R430H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2278430	NM_176782.3(FAM151A):c.1255G>A (p.Ala419Thr)	FAM151A, ACOT11 (A419T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2342647	NM_176782.3(FAM151A):c.1181C>T (p.Thr394Met)	FAM151A, ACOT11 (T394M)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488732	NM_176782.3(FAM151A):c.1175T>A (p.Ile392Asn)	ACOT11, FAM151A (I392N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2312886	NM_176782.3(FAM151A):c.1144G>A (p.Val382Met)	FAM151A, ACOT11 (V382M)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232615	NM_176782.3(FAM151A):c.1112C>T (p.Thr371Ile)	ACOT11, FAM151A (T371I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2235369	NM_176782.3(FAM151A):c.1079T>A (p.Leu360His)	ACOT11, FAM151A (L360H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291730	NM_176782.3(FAM151A):c.986T>C (p.Ile329Thr)	ACOT11, FAM151A (I329T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296251	NM_176782.3(FAM151A):c.962T>A (p.Met321Lys)	ACOT11, FAM151A (M321K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554602	NM_176782.3(FAM151A):c.932A>G (p.Gln311Arg)	ACOT11, FAM151A (Q311R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358740	NM_176782.3(FAM151A):c.749T>C (p.Met250Thr)	ACOT11, FAM151A (M250T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513077	NM_176782.3(FAM151A):c.503G>A (p.Arg168Gln)	ACOT11, FAM151A (R168Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340484	NM_176782.3(FAM151A):c.485A>G (p.Glu162Gly)	ACOT11, FAM151A (E162G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492877	NM_176782.3(FAM151A):c.448G>C (p.Val150Leu)	ACOT11, FAM151A (V150L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479426	NM_176782.3(FAM151A):c.374T>G (p.Leu125Arg)	ACOT11, FAM151A (L125R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246482	NM_176782.3(FAM151A):c.350C>A (p.Pro117His)	ACOT11, FAM151A (P117H)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254335	NM_176782.3(FAM151A):c.335T>A (p.Ile112Asn)	ACOT11, FAM151A (I112N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247908	NM_176782.3(FAM151A):c.329T>G (p.Val110Gly)	ACOT11, FAM151A (V110G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267852	NM_176782.3(FAM151A):c.316A>C (p.Asn106His)	ACOT11, FAM151A (N106H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588577	NM_176782.3(FAM151A):c.223G>A (p.Ala75Thr)	ACOT11, FAM151A (A75T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612742	NM_176782.3(FAM151A):c.148G>A (p.Ala50Thr)	ACOT11, FAM151A (A50T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279921	NM_176782.3(FAM151A):c.110G>A (p.Arg37Gln)	FAM151A, ACOT11 (R37Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2462481	NM_176782.3(FAM151A):c.89T>C (p.Ile30Thr)	ACOT11, FAM151A (I30T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2408852	NM_176782.3(FAM151A):c.40T>A (p.Trp14Arg)	ACOT11, FAM151A (W14R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607091	NM_176782.3(FAM151A):c.18G>T (p.Gln6His)	ACOT11, FAM151A (Q6H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 33