ClinVar for MedGen (Select 934584) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3068239	NM_001003694.2(BRPF1):c.1181C>T (p.Ser394Leu)	BRPF1 (S394L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 3066369	NM_001003694.2(BRPF1):c.2004_2005del (p.Val668_Pro669insTer)	BRPF1	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
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 3065361	NM_001003694.2(BRPF1):c.2111A>G (p.Asn704Ser)	BRPF1 (N698S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
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 3024347	NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)	BRPF1 (K942fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 3024312	NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)	BRPF1 (Q538*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 2691274	NM_001003694.2(BRPF1):c.940C>T (p.Gln314Ter)	BRPF1 (Q314*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2672220	NM_001003694.2(BRPF1):c.2545_2566dup (p.Ala856delinsGlyTer)	BRPF1	Duplication (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2584623	NM_001003694.2(BRPF1):c.2588A>C (p.Gln863Pro)	BRPF1 (Q856P +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2442378	NM_001003694.2(BRPF1):c.945G>A (p.Trp315Ter)	BRPF1 (W315*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2442081	NM_001003694.2(BRPF1):c.3571C>A (p.Arg1191Ser)	BRPF1 (R1090S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2441962	NM_001003694.2(BRPF1):c.3069-1G>A	BRPF1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 2439569	NM_001003694.2(BRPF1):c.976C>T (p.Arg326Cys)	BRPF1 (R326C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis +1 more	GUncertain significance
Select item 2439568	NM_001003694.2(BRPF1):c.2219G>A (p.Arg740His)	BRPF1 (R734H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 2439567	NM_001003694.2(BRPF1):c.1831C>T (p.Arg611Trp)	BRPF1 (R611W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	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 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 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 2439563	NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser)	BRPF1 (A396S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
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 1806230	NM_001003694.2(BRPF1):c.2573G>T (p.Cys858Phe)	BRPF1 (C851F +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	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 1805866	NM_001003694.2(BRPF1):c.1990G>A (p.Glu664Lys)	BRPF1 (E664K)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1805758	NM_001003694.2(BRPF1):c.1870A>G (p.Ile624Val)	BRPF1 (I624V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1805707	NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter)	BRPF1 (Y406*)	Duplication (nonsense +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
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 1805054	NM_001003694.2(BRPF1):c.1952A>G (p.Asn651Ser)	BRPF1 (N651S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1710221	NM_001003694.2(BRPF1):c.1240G>C (p.Ala414Pro)	BRPF1 (A414P)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1709496	NM_001003694.2(BRPF1):c.2996G>A (p.Ser999Asn)	BRPF1 (S898N +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1700216	NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs)	BRPF1 (R593fs)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
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 1698831	NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)	BRPF1 (V300M)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 1685594	NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp)	BRPF1 (G1044D +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 1685593	NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg)	BRPF1 (K670R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 1685592	NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter)	BRPF1 (Q322*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
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 1343509	NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)	BRPF1 (R347fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 1342516	NM_001003694.2(BRPF1):c.2074C>T (p.Arg692Cys)	BRPF1 (R686C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1342484	NM_001003694.2(BRPF1):c.2515G>A (p.Gly839Ser)	BRPF1 (G832S +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1333744	NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs)	BRPF1 (L1082fs +3 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 1333633	NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter)	BRPF1 (L556*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 1333613	NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	BRPF1 (W478*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic/Likely pathogenic
Select item 1325379	NM_001003694.2(BRPF1):c.2798del (p.Pro933fs)	BRPF1 (P926fs +2 more)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 1307932	NM_001003694.2(BRPF1):c.362A>C (p.Glu121Ala)	BRPF1 (E121A)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis +1 more	GUncertain significance
Select item 1192361	NM_001003694.2(BRPF1):c.1854+24A>G	BRPF1	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies and ptosis	GBenign
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 1098616	NM_080746.3(RPL10L):c.501C>G (p.Ile167Met)	RPL10L (I167M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1065453	NM_001003694.2(BRPF1):c.1142G>A (p.Arg381His)	BRPF1 (R381H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
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 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 1031690	NM_001003694.2(BRPF1):c.2297A>G (p.His766Arg)	BRPF1 (H760R +1 more)	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 1028905	NM_001003694.2(BRPF1):c.2851G>A (p.Gly951Ser)	BRPF1 (G951S +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1028904	NM_001003694.2(BRPF1):c.2339T>A (p.Leu780Gln)	BRPF1 (L773Q +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1028414	NM_001003694.2(BRPF1):c.2213C>G (p.Ala738Gly)	BRPF1 (A738G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1028413	NM_001003694.2(BRPF1):c.1748C>T (p.Ala583Val)	BRPF1 (A583V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 1028412	NM_001003694.2(BRPF1):c.1382A>G (p.His461Arg)	BRPF1 (H461R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 989334	NM_001003694.2(BRPF1):c.2926C>T (p.Pro976Ser)	BRPF1 (P875S +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 984637	NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)	BRPF1 (Y387fs)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 983015	NM_001003694.2(BRPF1):c.3068+1G>T	BRPF1	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
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 975192	NM_001003694.2(BRPF1):c.1313del (p.Val438fs)	BRPF1 (V438fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 975191	NM_001003694.2(BRPF1):c.2311+1G>A	BRPF1	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 930594	NM_001003694.2(BRPF1):c.1743C>A (p.Asn581Lys)	BRPF1 (N581K)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GUncertain significance
Select item 810669	NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)	BRPF1 (A396fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
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 625524	NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter)	BRPF1 (Q587*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 623648	NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)	BRPF1 (K585fs)	Indel (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic
Select item 559906	NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter)	BRPF1 (Q302*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 521797	NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)	BRPF1 (Q931fs +2 more)	Duplication (frameshift variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 452827	NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)	BRPF1 (F1154del +3 more)	Microsatellite (inframe_deletion +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis +1 more	GLikely pathogenic
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 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 375491	NM_001003694.2(BRPF1):c.1165T>C (p.Cys389Arg)	BRPF1 (C389R)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 375490	NM_001003694.2(BRPF1):c.2982C>G (p.Tyr994Ter)	BRPF1 (Y994* +3 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 375488	NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter)	BRPF1 (R1100* +3 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 375487	NM_001003694.2(BRPF1):c.2497C>T (p.Arg833Ter)	BRPF1 (R833* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 375485	NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter)	BRPF1 (R455*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 375484	NM_001003694.2(BRPF1):c.1108C>T (p.Pro370Ser)	BRPF1 (P370S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 268185	NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)	BRPF1 (V351fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability	GPathogenic

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Items: 84