"Ambry Genetics"[submitter] AND "FAM184A"[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2212068	NM_024581.6(FAM184A):c.3406C>T (p.Arg1136Trp)	FAM184A (R932W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092109	NM_024581.6(FAM184A):c.3396G>C (p.Glu1132Asp)	FAM184A (E1132D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277292	NM_024581.6(FAM184A):c.3359C>G (p.Ala1120Gly)	FAM184A (A1120G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092108	NM_024581.6(FAM184A):c.3358G>A (p.Ala1120Thr)	FAM184A (A916T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549035	NM_024581.6(FAM184A):c.3239G>A (p.Arg1080His)	FAM184A (R911H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249168	NM_024581.6(FAM184A):c.3194T>G (p.Leu1065Arg)	FAM184A (L861R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092107	NM_024581.6(FAM184A):c.3144G>C (p.Lys1048Asn)	FAM184A (K844N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357145	NM_024581.6(FAM184A):c.3024G>T (p.Lys1008Asn)	FAM184A (K839N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560442	NM_024581.6(FAM184A):c.2968A>G (p.Ile990Val)	FAM184A (I821V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311468	NM_024581.6(FAM184A):c.2848A>G (p.Ile950Val)	FAM184A (I950V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092106	NM_024581.6(FAM184A):c.2803A>G (p.Lys935Glu)	FAM184A (K935E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545523	NM_024581.6(FAM184A):c.2560A>C (p.Ser854Arg)	FAM184A (S854R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292538	NM_024581.6(FAM184A):c.2552T>C (p.Leu851Ser)	FAM184A (L731S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615856	NM_024581.6(FAM184A):c.2545A>C (p.Met849Leu)	FAM184A (M729L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277290	NM_024581.6(FAM184A):c.2497A>G (p.Ile833Val)	FAM184A (I713V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607367	NM_024581.6(FAM184A):c.2375T>C (p.Met792Thr)	FAM184A (M672T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487047	NM_024581.6(FAM184A):c.2272A>G (p.Met758Val)	FAM184A (M758V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536286	NM_024581.6(FAM184A):c.2240T>C (p.Leu747Ser)	FAM184A (L747S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234669	NM_024581.6(FAM184A):c.2232C>A (p.His744Gln)	FAM184A (H624Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277288	NM_024581.6(FAM184A):c.2203G>A (p.Glu735Lys)	FAM184A (E735K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277286	NM_024581.6(FAM184A):c.2200G>A (p.Glu734Lys)	FAM184A (E614K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511435	NM_024581.6(FAM184A):c.2197C>A (p.Leu733Ile)	FAM184A (L613I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360188	NM_024581.6(FAM184A):c.2186T>C (p.Leu729Pro)	FAM184A (L609P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092105	NM_024581.6(FAM184A):c.2182C>T (p.Arg728Trp)	FAM184A (R608W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516999	NM_024581.6(FAM184A):c.2168C>T (p.Thr723Met)	FAM184A (T603M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334132	NM_024581.6(FAM184A):c.2155C>G (p.Gln719Glu)	FAM184A (Q599E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460434	NM_024581.6(FAM184A):c.2144T>G (p.Leu715Trp)	FAM184A (L595W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487287	NM_024581.6(FAM184A):c.2108A>G (p.Asn703Ser)	FAM184A (N703S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330577	NM_024581.6(FAM184A):c.2009A>T (p.Gln670Leu)	FAM184A (Q550L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092104	NM_024581.6(FAM184A):c.1997C>T (p.Ser666Leu)	FAM184A (S546L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510103	NM_024581.6(FAM184A):c.1847A>G (p.Glu616Gly)	FAM184A (E496G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277291	NM_024581.6(FAM184A):c.1726C>T (p.Leu576Phe)	FAM184A (L456F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229779	NM_024581.6(FAM184A):c.1721C>T (p.Ala574Val)	FAM184A (A454V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092103	NM_024581.6(FAM184A):c.1664T>C (p.Leu555Pro)	FAM184A (L435P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273375	NM_024581.6(FAM184A):c.1618G>A (p.Val540Ile)	FAM184A (V540I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360066	NM_024581.6(FAM184A):c.1583A>G (p.Asn528Ser)	FAM184A (N408S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568718	NM_024581.6(FAM184A):c.1537G>A (p.Glu513Lys)	FAM184A (E393K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351531	NM_024581.6(FAM184A):c.1531G>C (p.Asp511His)	FAM184A (D511H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315936	NM_024581.6(FAM184A):c.1508G>C (p.Arg503Thr)	FAM184A (R503T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320166	NM_024581.6(FAM184A):c.1500T>A (p.Asn500Lys)	FAM184A (N500K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092102	NM_024581.6(FAM184A):c.1465A>G (p.Lys489Glu)	FAM184A (K489E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509513	NM_024581.6(FAM184A):c.1288A>C (p.Ser430Arg)	FAM184A (S430R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492127	NM_024581.6(FAM184A):c.1212A>C (p.Glu404Asp)	FAM184A (E284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560797	NM_024581.6(FAM184A):c.1157T>C (p.Ile386Thr)	FAM184A (I386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266968	NM_024581.6(FAM184A):c.1112G>A (p.Arg371His)	FAM184A (R251H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3092101	NM_024581.6(FAM184A):c.1105A>G (p.Arg369Gly)	FAM184A (R249G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289844	NM_024581.6(FAM184A):c.1015G>A (p.Val339Ile)	FAM184A (V219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092115	NM_024581.6(FAM184A):c.995T>C (p.Ile332Thr)	FAM184A (I212T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256971	NM_024581.6(FAM184A):c.983C>T (p.Thr328Met)	FAM184A (T328M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092114	NM_024581.6(FAM184A):c.961G>A (p.Asp321Asn)	FAM184A (D201N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299534	NM_024581.6(FAM184A):c.929A>G (p.Gln310Arg)	FAM184A (Q190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092113	NM_024581.6(FAM184A):c.782G>A (p.Arg261His)	FAM184A (R141H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277289	NM_024581.6(FAM184A):c.728A>G (p.Lys243Arg)	FAM184A (K243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350037	NM_024581.6(FAM184A):c.656C>G (p.Ala219Gly)	FAM184A (A219G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092112	NM_024581.6(FAM184A):c.577G>T (p.Ala193Ser)	FAM184A (A193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092111	NM_024581.6(FAM184A):c.529G>C (p.Val177Leu)	FAM184A (V177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386370	NM_024581.6(FAM184A):c.509G>A (p.Arg170Gln)	FAM184A (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384014	NM_024581.6(FAM184A):c.508C>T (p.Arg170Trp)	FAM184A (R50W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235370	NM_024581.6(FAM184A):c.451A>T (p.Ile151Leu)	FAM184A (I151L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277293	NM_024581.6(FAM184A):c.250C>G (p.Leu84Val)	FAM184A (L84V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489873	NM_024581.6(FAM184A):c.218A>G (p.Lys73Arg)	FAM184A (K73R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539106	NM_024581.6(FAM184A):c.205A>G (p.Ile69Val)	FAM184A (I69V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2507781	NM_024581.6(FAM184A):c.132G>A (p.Met44Ile)	FAM184A (M44I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455013	NM_024581.6(FAM184A):c.116A>G (p.Glu39Gly)	FAM184A (E39G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232739	NM_024581.6(FAM184A):c.95A>G (p.His32Arg)	FAM184A (H32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538889	NM_024581.6(FAM184A):c.62C>T (p.Ala21Val)	FAM184A (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092110	NM_024581.6(FAM184A):c.47C>T (p.Ser16Leu)	FAM184A (S16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277294	NM_024581.6(FAM184A):c.43G>A (p.Gly15Ser)	FAM184A (G15S)	Single nucleotide variant (missense variant +1 more)	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: 68