FAM184A[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 59530	GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3	ASF1A, CEP85L +32 more	Copy number gain	See cases	GUncertain significance
Select item 148235	GRCh38/hg38 6q22.31(chr6:118953443-120037496)x3	FAM184A, LOC105377975 +15 more	Copy number gain	See cases	GLikely benign
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 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
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 2656891	NM_024581.6(FAM184A):c.114G>A (p.Gln38=)	FAM184A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1527283	GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981)	ASF1A, CEP85L +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253788	GRCh37/hg19 6q22.31(chr6:119442943-121506177)x1	FAM184A, TBC1D32 +1 more	Copy number loss	See cases	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180223	NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del	ASF1A, CEP85L +7 more	Deletion	Generalized non-motor (absence) seizure +2 more	GPathogenic

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Items: 99