"Ambry Genetics"[submitter] AND "AHCYL2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277016	NM_015328.4(AHCYL2):c.5C>G (p.Ser2Trp)	AHCYL2 (S2W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406156	NM_015328.4(AHCYL2):c.23C>G (p.Ala8Gly)	AHCYL2 (A8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277006	NM_015328.4(AHCYL2):c.118G>C (p.Ala40Pro)	AHCYL2, LOC129999307 (A40P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616246	NM_015328.4(AHCYL2):c.121A>T (p.Met41Leu)	AHCYL2, LOC129999307 (M41L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207648	NM_015328.4(AHCYL2):c.169G>T (p.Ala57Ser)	AHCYL2, LOC129999307 (A57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224197	NM_015328.4(AHCYL2):c.173A>C (p.Glu58Ala)	AHCYL2, LOC129999307 (E58A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378694	NM_015328.4(AHCYL2):c.178C>T (p.Pro60Ser)	AHCYL2, LOC129999307 (P60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391317	NM_015328.4(AHCYL2):c.185T>G (p.Val62Gly)	AHCYL2, LOC129999307 (V62G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322384	NM_015328.4(AHCYL2):c.193C>T (p.Pro65Ser)	AHCYL2, LOC129999307 (P65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346300	NM_015328.4(AHCYL2):c.230C>T (p.Ala77Val)	AHCYL2, LOC129999307 (A77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276988	NM_015328.4(AHCYL2):c.247G>A (p.Ala83Thr)	AHCYL2, LOC129999307 (A83T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277049	NM_015328.4(AHCYL2):c.278A>G (p.His93Arg)	AHCYL2, LOC129999307 (H93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098060	NM_015328.4(AHCYL2):c.295C>T (p.Arg99Cys)	AHCYL2 (R99C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276998	NM_015328.4(AHCYL2):c.316G>A (p.Val106Ile)	AHCYL2 (V106I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518120	NM_015328.4(AHCYL2):c.381C>G (p.Asp127Glu)	AHCYL2 (D24E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510240	NM_015328.4(AHCYL2):c.415A>G (p.Ile139Val)	AHCYL2 (I138V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523795	NM_015328.4(AHCYL2):c.476C>T (p.Ala159Val)	AHCYL2 (A158V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3277037	NM_015328.4(AHCYL2):c.494G>T (p.Ser165Ile)	AHCYL2 (S164I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098073	NM_015328.4(AHCYL2):c.526C>G (p.Gln176Glu)	AHCYL2 (Q175E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372063	NM_015328.4(AHCYL2):c.542A>G (p.Lys181Arg)	AHCYL2 (K181R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549333	NM_015328.4(AHCYL2):c.731A>G (p.Glu244Gly)	AHCYL2 (E239G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528988	NM_015328.4(AHCYL2):c.820A>C (p.Ser274Arg)	AHCYL2 (S171R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098090	NM_015328.4(AHCYL2):c.953T>C (p.Ile318Thr)	AHCYL2 (I313T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535803	NM_015328.4(AHCYL2):c.1006A>G (p.Ser336Gly)	AHCYL2 (S129G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494533	NM_015328.4(AHCYL2):c.1055T>A (p.Leu352Gln)	AHCYL2 (L347Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277027	NM_015328.4(AHCYL2):c.1132A>G (p.Ile378Val)	AHCYL2 (I378V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098036	NM_015328.4(AHCYL2):c.1313T>C (p.Leu438Pro)	AHCYL2 (L335P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306185	NM_015328.4(AHCYL2):c.1487C>T (p.Thr496Ile)	AHCYL2 (T393I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611683	NM_015328.4(AHCYL2):c.1541G>A (p.Arg514Lys)	AHCYL2 (R509K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509072	NM_015328.4(AHCYL2):c.1576C>T (p.Leu526Phe)	AHCYL2 (L521F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456532	NM_015328.4(AHCYL2):c.1612A>G (p.Ile538Val)	AHCYL2 (I533V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 31