"Ambry Genetics"[submitter] AND "AK5"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2214664	NM_174858.3(AK5):c.47C>T (p.Pro16Leu)	AK5 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557912	NM_174858.3(AK5):c.172A>G (p.Thr58Ala)	AK5 (T32A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260181	NM_174858.3(AK5):c.195G>T (p.Lys65Asn)	AK5 (K39N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103579	NM_174858.3(AK5):c.227G>A (p.Arg76Gln)	AK5 (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256851	NM_174858.3(AK5):c.280C>T (p.Arg94Trp)	AK5 (R68W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279913	NM_174858.3(AK5):c.289C>T (p.Arg97Trp)	AK5 (R97W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334968	NM_174858.3(AK5):c.290G>A (p.Arg97Gln)	AK5 (R97Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103600	NM_174858.3(AK5):c.382A>G (p.Thr128Ala)	AK5 (T102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294098	NM_174858.3(AK5):c.487G>A (p.Val163Met)	AK5 (V137M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277187	NM_174858.3(AK5):c.518G>A (p.Ser173Asn)	AK5 (S147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480695	NM_174858.3(AK5):c.751A>G (p.Lys251Glu)	AK5 (K251E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263182	NM_174858.3(AK5):c.796G>A (p.Asp266Asn)	AK5 (D266N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215901	NM_174858.3(AK5):c.886A>G (p.Met296Val)	AK5 (M296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103650	NM_174858.3(AK5):c.893T>G (p.Phe298Cys)	AK5 (F272C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357166	NM_174858.3(AK5):c.957A>T (p.Leu319Phe)	AK5 (L319F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253459	NM_174858.3(AK5):c.1010T>C (p.Ile337Thr)	AK5 (I337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103456	NM_174858.3(AK5):c.1061G>T (p.Gly354Val)	AK5 (G328V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244187	NM_174858.3(AK5):c.1070A>G (p.Gln357Arg)	AK5 (Q331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323129	NM_174858.3(AK5):c.1225G>C (p.Glu409Gln)	AK5 (E409Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619627	NM_174858.3(AK5):c.1291C>T (p.Arg431Cys)	AK5 (R405C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600802	NM_174858.3(AK5):c.1318G>A (p.Val440Ile)	AK5 (V440I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332694	NM_174858.3(AK5):c.1344G>A (p.Met448Ile)	AK5 (M448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103497	NM_174858.3(AK5):c.1357G>A (p.Gly453Arg)	AK5 (G427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103507	NM_174858.3(AK5):c.1384G>A (p.Gly462Ser)	AK5 (G462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257635	NM_174858.3(AK5):c.1393C>T (p.Arg465Trp)	AK5 (R439W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369789	NM_174858.3(AK5):c.1420G>A (p.Gly474Arg)	AK5 (G474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321473	NM_174858.3(AK5):c.1420G>C (p.Gly474Arg)	AK5 (G474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103534	NM_174858.3(AK5):c.1504C>T (p.Arg502Trp)	AK5 (R476W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103544	NM_174858.3(AK5):c.1531A>G (p.Thr511Ala)	AK5 (T485A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559752	NM_174858.3(AK5):c.1595A>T (p.Tyr532Phe)	AK5 (Y506F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308009	NM_174858.3(AK5):c.1642G>A (p.Glu548Lys)	AK5 (E548K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31