14255[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 150505	GRCh38/hg38 3p25.3(chr3:9142303-9793982)x3	ARPC4, ARPC4-TTLL3 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 1064563	NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg)	BRPF1 (M1R)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 489079	NM_001003694.2(BRPF1):c.3G>A (p.Met1Ile)	BRPF1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1311853	NM_001003694.2(BRPF1):c.10G>C (p.Asp4His)	BRPF1 (D4H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757830	NM_001003694.2(BRPF1):c.18T>C (p.Asp6=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522172	NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs)	BRPF1 (F10fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1031691	NM_001003694.2(BRPF1):c.47C>T (p.Ala16Val)	BRPF1 (A16V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2480659	NM_001003694.2(BRPF1):c.55C>T (p.Pro19Ser)	BRPF1 (P19S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786000	NM_001003694.2(BRPF1):c.63C>T (p.Tyr21=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis +1 more	GBenign/Likely benign
Select item 975193	NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg)	BRPF1 (C23R)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 1805696	NM_001003694.2(BRPF1):c.89A>G (p.Lys30Arg)	BRPF1 (K30R)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 375493	NM_001003694.2(BRPF1):c.104dup (p.Tyr35Ter)	BRPF1 (Y35*)	Duplication (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 715567	NM_001003694.2(BRPF1):c.195G>A (p.Gly65=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3064549	NM_001003694.2(BRPF1):c.196C>T (p.Arg66Cys)	BRPF1 (R66C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely benign
Select item 1699306	NM_001003694.2(BRPF1):c.218A>G (p.Lys73Arg)	BRPF1 (K73R)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1031689	NM_001003694.2(BRPF1):c.227C>T (p.Pro76Leu)	BRPF1 (P76L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 978105	NM_001003694.2(BRPF1):c.241G>A (p.Val81Ile)	BRPF1 (V81I)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 2664608	NM_001003694.2(BRPF1):c.260G>A (p.Arg87His)	BRPF1 (R87H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242190	NM_001003694.2(BRPF1):c.282G>T (p.Gln94His)	BRPF1 (Q94H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 440978	NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter)	BRPF1 (Q96*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1310201	NM_001003694.2(BRPF1):c.290G>A (p.Arg97His)	BRPF1 (R97H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2230573	NM_001003694.2(BRPF1):c.292A>G (p.Met98Val)	BRPF1 (M98V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 799387	NM_001003694.2(BRPF1):c.297G>A (p.Val99=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2574871	NM_001003694.2(BRPF1):c.298G>A (p.Glu100Lys)	BRPF1 (E100K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992340	NM_001003694.2(BRPF1):c.306C>G (p.Asp102Glu)	BRPF1 (D102E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2691446	NM_001003694.2(BRPF1):c.316C>T (p.Arg106Cys)	BRPF1 (R106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 975189	NM_001003694.2(BRPF1):c.319G>A (p.Val107Ile)	BRPF1 (V107I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 2672925	NM_001003694.2(BRPF1):c.328A>G (p.Ile110Val)	BRPF1 (I110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026458	NM_001003694.2(BRPF1):c.332G>A (p.Ser111Asn)	BRPF1 (S111N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3057591	NM_001003694.2(BRPF1):c.333C>T (p.Ser111=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 713778	NM_001003694.2(BRPF1):c.354G>T (p.Val118=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2553571	NM_001003694.2(BRPF1):c.359C>T (p.Ser120Leu)	BRPF1 (S120L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 375486	NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs)	BRPF1 (E121fs)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder +1 more	GPathogenic
Select item 1307932	NM_001003694.2(BRPF1):c.362A>C (p.Glu121Ala)	BRPF1 (E121A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2325268	NM_001003694.2(BRPF1):c.363G>C (p.Glu121Asp)	BRPF1 (E121D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026575	NM_001003694.2(BRPF1):c.373G>A (p.Ala125Thr)	BRPF1 (A125T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 749860	NM_001003694.2(BRPF1):c.378C>T (p.Pro126=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 725803	NM_001003694.2(BRPF1):c.380A>G (p.Glu127Gly)	BRPF1 (E127G)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder +1 more	GLikely benign
Select item 2439565	NM_001003694.2(BRPF1):c.433A>G (p.Thr145Ala)	BRPF1 (T145A)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2502640	NM_001003694.2(BRPF1):c.477C>A (p.Asp159Glu)	BRPF1 (D159E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439564	NM_001003694.2(BRPF1):c.482A>G (p.Asn161Ser)	BRPF1 (N161S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2446072	NM_001003694.2(BRPF1):c.487C>G (p.His163Asp)	BRPF1 (H163D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236572	NM_001003694.2(BRPF1):c.491dup (p.His164fs)	BRPF1 (H164fs)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3135116	NM_001003694.2(BRPF1):c.492C>G (p.His164Gln)	BRPF1 (H164Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622203	NM_001003694.2(BRPF1):c.506C>G (p.Ser169Cys)	BRPF1 (S169C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336936	NM_001003694.2(BRPF1):c.524A>G (p.Lys175Arg)	BRPF1 (K175R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439566	NM_001003694.2(BRPF1):c.535G>C (p.Val179Leu)	BRPF1 (V179L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1804632	NM_001003694.2(BRPF1):c.544C>T (p.Arg182Trp)	BRPF1 (R182W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1164021	NM_001003694.2(BRPF1):c.556C>T (p.Gln186Ter)	BRPF1 (Q186*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 817938	NM_001003694.2(BRPF1):c.558_570delinsAGGTAGAGGTG (p.Asp187fs)	BRPF1 (D187fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 375492	NM_001003694.2(BRPF1):c.567del (p.Asp190fs)	BRPF1 (D190fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2435595	NM_001003694.2(BRPF1):c.598del (p.Arg200fs)	BRPF1 (R200fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2579422	NM_001003694.2(BRPF1):c.599+5G>T	BRPF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 771345	NM_001003694.2(BRPF1):c.621G>A (p.Glu207=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791907	NM_001003694.2(BRPF1):c.654C>T (p.Asp218=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2663320	NM_001003694.2(BRPF1):c.655G>A (p.Glu219Lys)	BRPF1 (E219K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3135117	NM_001003694.2(BRPF1):c.659A>C (p.Glu220Ala)	BRPF1 (E220A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2653484	NM_001003694.2(BRPF1):c.660G>A (p.Glu220=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579406	NM_001003694.2(BRPF1):c.686A>G (p.Asn229Ser)	BRPF1 (N229S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2473961	NM_001003694.2(BRPF1):c.692G>C (p.Arg231Pro)	BRPF1 (R231P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065503	NM_001003694.2(BRPF1):c.694C>T (p.Arg232Trp)	BRPF1 (R232W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 872479	NM_001003694.2(BRPF1):c.704_705del (p.Glu235fs)	BRPF1 (E235fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 957300	NM_001003694.2(BRPF1):c.713G>A (p.Ser238Asn)	BRPF1 (S238N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 744663	NM_001003694.2(BRPF1):c.723G>A (p.Pro241=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2628571	NM_001003694.2(BRPF1):c.737A>G (p.Glu246Gly)	BRPF1 (E246G)	Single nucleotide variant (missense variant +1 more)	BRPF1-related disorder	GUncertain significance
Select item 1413493	NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter)	BRPF1 (R251*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis +2 more	GPathogenic
Select item 746108	NM_001003694.2(BRPF1):c.762G>A (p.Lys254=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1305217	NM_001003694.2(BRPF1):c.767C>T (p.Ser256Leu)	BRPF1 (S256L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3135118	NM_001003694.2(BRPF1):c.770A>G (p.Tyr257Cys)	BRPF1 (Y257C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1311573	NM_001003694.2(BRPF1):c.778A>C (p.Ser260Arg)	BRPF1 (S260R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3057358	NM_001003694.2(BRPF1):c.780T>C (p.Ser260=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	BRPF1-related disorder	GLikely benign
Select item 3135119	NM_001003694.2(BRPF1):c.785A>G (p.Asn262Ser)	BRPF1 (N262S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2633009	NM_001003694.2(BRPF1):c.789del (p.Gly264fs)	BRPF1 (G264fs)	Deletion (frameshift variant +1 more)	BRPF1-related disorder	GPathogenic
Select item 2260656	NM_001003694.2(BRPF1):c.790G>C (p.Gly264Arg)	BRPF1 (G264R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429690	NM_001003694.2(BRPF1):c.797C>T (p.Pro266Leu)	BRPF1 (P266L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2701933	NM_001003694.2(BRPF1):c.808G>A (p.Val270Met)	BRPF1 (V270M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806051	NM_001003694.2(BRPF1):c.809T>A (p.Val270Glu)	BRPF1 (V270E)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 798633	NM_001003694.2(BRPF1):c.813C>T (p.Asp271=)	BRPF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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