"Ambry Genetics"[submitter] AND "ATG16L1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2290885	NM_030803.7(ATG16L1):c.139G>C (p.Asp47His)	ATG16L1 (D47H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600624	NM_030803.7(ATG16L1):c.157G>T (p.Ala53Ser)	ATG16L1 (A53S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226735	NM_030803.7(ATG16L1):c.187G>A (p.Val63Ile)	ATG16L1 (V63I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2618236	NM_030803.7(ATG16L1):c.409A>T (p.Thr137Ser)	ATG16L1 (T137S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298769	NM_030803.7(ATG16L1):c.428C>T (p.Thr143Met)	ATG16L1 (T27M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400511	NM_030803.7(ATG16L1):c.514A>G (p.Thr172Ala)	ATG16L1 (T88A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517191	NM_030803.7(ATG16L1):c.886G>A (p.Asp296Asn)	ATG16L1 (D180N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314707	NM_030803.7(ATG16L1):c.1074C>G (p.Phe358Leu)	ATG16L1 (F274L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338364	NM_030803.7(ATG16L1):c.1082C>T (p.Ser361Phe)	ATG16L1 (S342F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495760	NM_030803.7(ATG16L1):c.1102G>A (p.Gly368Arg)	ATG16L1 (G385R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479767	NM_030803.7(ATG16L1):c.1150G>A (p.Ala384Thr)	ATG16L1 (A401T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210507	NM_030803.7(ATG16L1):c.1262C>T (p.Ala421Val)	ATG16L1 (A258V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620253	NM_030803.7(ATG16L1):c.1547A>G (p.Asp516Gly)	ATG16L1 (D516G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313217	NM_030803.7(ATG16L1):c.1549C>T (p.Leu517Phe)	ATG16L1 (L534F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459032	NM_030803.7(ATG16L1):c.1561G>A (p.Ala521Thr)	ATG16L1 (A405T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616589	NM_030803.7(ATG16L1):c.1600G>A (p.Gly534Ser)	ATG16L1 (G534S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285638	NM_030803.7(ATG16L1):c.1710G>C (p.Lys570Asn)	ATG16L1 (K570N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance