DAP3[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 145877	GRCh38/hg38 1q22(chr1:155648847-155715659)x3	DAP3, LOC129931572 +2 more	Copy number gain	See cases	GLikely benign
Select item 3065474	NM_139119.3(YY1AP1):c.-21+1G>T	DAP3, YY1AP1	Single nucleotide variant (splice donor variant +1 more)	Grange syndrome	GLikely pathogenic
Select item 1723831	NM_139119.3(YY1AP1):c.-27C>T	DAP3, YY1AP1 (R130* +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 720659	NM_139119.3(YY1AP1):c.-30C>T	DAP3, YY1AP1 (L57F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 775608	NM_139119.3(YY1AP1):c.-49T>C	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3333760	NM_139119.3(YY1AP1):c.-59C>T	DAP3, YY1AP1 (S119L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 782734	NM_139119.3(YY1AP1):c.-60T>C	DAP3, YY1AP1 (S119P +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 2372280	NM_139119.3(YY1AP1):c.-90C>T	DAP3, YY1AP1 (R109W +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 773115	NM_139119.3(YY1AP1):c.-95G>A	DAP3, YY1AP1 (G107E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2341000	NM_139119.3(YY1AP1):c.-141C>T	DAP3, YY1AP1 (R20C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3052471	NM_139119.3(YY1AP1):c.-145T>A	DAP3, YY1AP1	Single nucleotide variant (5 prime UTR variant +2 more)	YY1AP1-related disorder	GLikely benign
Select item 1031923	NM_139119.3(YY1AP1):c.-151-20_-151-18del	DAP3, YY1AP1 (L82del)	Microsatellite (inframe_deletion +1 more)	Grange syndrome	GUncertain significance
Select item 2557066	NM_139119.3(YY1AP1):c.-151-20C>T	DAP3, YY1AP1 (L82F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 720286	NM_139119.3(YY1AP1):c.-151-23C>T	DAP3, YY1AP1 (L81F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3191695	NM_139119.3(YY1AP1):c.-151-34A>G	DAP3, YY1AP1 (H77R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3191694	NM_139119.3(YY1AP1):c.-151-38C>T	DAP3, YY1AP1 (L76F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2066821	NM_139119.3(YY1AP1):c.-151-43T>A	DAP3, YY1AP1 (L74*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2362276	NM_139119.3(YY1AP1):c.-151-58C>T	DAP3, YY1AP1 (S69F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536393	NM_139119.3(YY1AP1):c.-151-61C>T	DAP3, YY1AP1 (S68F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791223	NM_139119.3(YY1AP1):c.-151-68T>C	DAP3, YY1AP1 (S66P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 783949	NM_139119.3(YY1AP1):c.-151-84A>G	DAP3, YY1AP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3191687	NM_139119.3(YY1AP1):c.-151-89A>G	DAP3, YY1AP1 (I59V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191685	NM_139119.3(YY1AP1):c.-151-91C>A	DAP3, YY1AP1 (T58K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1076776	NM_139119.3(YY1AP1):c.-151-100dup	DAP3, YY1AP1 (G56fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 736159	NM_139119.3(YY1AP1):c.-151-128_-151-120del	DAP3, YY1AP1	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 2218042	NM_139119.3(YY1AP1):c.-151-122C>T	DAP3, YY1AP1 (R48C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 740041	NM_139119.3(YY1AP1):c.-151-126C>T	YY1AP1, DAP3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3191681	NM_139119.3(YY1AP1):c.-151-161G>C	DAP3, YY1AP1 (E35Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305736	NM_139119.3(YY1AP1):c.-151-185G>A	DAP3, YY1AP1 (G27S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3054730	NM_139119.3(YY1AP1):c.-151-186A>G	DAP3, YY1AP1	Single nucleotide variant (synonymous variant +1 more)	YY1AP1-related disorder	GLikely benign
Select item 2480837	NM_139119.3(YY1AP1):c.-151-206G>A	DAP3, YY1AP1 (G20R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410878	NM_139119.3(YY1AP1):c.-152+213A>G	DAP3, YY1AP1 (S7G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075820	NM_139121.3(YY1AP1):c.-420T>A	DAP3, YY1AP1 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 3080053	NM_004632.4(DAP3):c.41A>G (p.His14Arg)	DAP3 (H14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639434	NM_004632.4(DAP3):c.45+3G>A	DAP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2253405	NM_004632.4(DAP3):c.58C>T (p.Arg20Cys)	DAP3 (R20C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3080052	NM_004632.4(DAP3):c.116A>G (p.Gln39Arg)	DAP3 (Q39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464559	NM_004632.4(DAP3):c.206A>G (p.Asn69Ser)	DAP3 (N28S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3270859	NM_004632.4(DAP3):c.257G>T (p.Arg86Leu)	DAP3 (R45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325827	NM_004632.4(DAP3):c.385G>C (p.Glu129Gln)	DAP3 (E88Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683850	NM_004632.4(DAP3):c.395C>T (p.Thr132Ile)	DAP3 (T132I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461998	NM_004632.4(DAP3):c.515G>A (p.Ser172Asn)	DAP3 (S138N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322846	NM_004632.4(DAP3):c.547G>C (p.Glu183Gln)	DAP3 (E183Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270861	NM_004632.4(DAP3):c.556A>G (p.Thr186Ala)	DAP3 (T152A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401785	NM_004632.4(DAP3):c.565A>G (p.Lys189Glu)	DAP3 (K155E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588544	NM_004632.4(DAP3):c.575A>G (p.Lys192Arg)	DAP3 (K151R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348894	NM_004632.4(DAP3):c.589C>T (p.Arg197Cys)	DAP3 (R163C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639435	NM_004632.4(DAP3):c.600C>T (p.Asn200=)	DAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546261	NM_004632.4(DAP3):c.661C>T (p.Pro221Ser)	DAP3 (P187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270857	NM_004632.4(DAP3):c.716C>G (p.Ala239Gly)	DAP3 (A198G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791112	NM_004632.4(DAP3):c.718G>T (p.Val240Phe)	DAP3 (V199F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3270858	NM_004632.4(DAP3):c.802C>T (p.Leu268Phe)	DAP3 (L227F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493492	NM_004632.4(DAP3):c.842C>G (p.Pro281Arg)	DAP3 (P281R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080054	NM_004632.4(DAP3):c.895A>G (p.Asn299Asp)	DAP3 (N299D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369543	NM_004632.4(DAP3):c.926C>T (p.Ala309Val)	DAP3 (A268V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609156	NM_004632.4(DAP3):c.973C>T (p.Pro325Ser)	DAP3 (P284S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080055	NM_004632.4(DAP3):c.980A>C (p.Glu327Ala)	DAP3 (E293A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553418	NM_004632.4(DAP3):c.1091A>G (p.Asn364Ser)	DAP3 (N323S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066057	NM_004632.4(DAP3):c.1139T>G (p.Leu380Arg)	DAP3 (L339R +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2683851	NM_004632.4(DAP3):c.1174G>A (p.Glu392Lys)	DAP3 (E351K +2 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1	GLikely pathogenic
Select item 2224447	NM_004632.4(DAP3):c.1177C>T (p.Arg393Trp)	DAP3 (R359W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368060	NM_004632.4(DAP3):c.1178G>A (p.Arg393Gln)	DAP3 (R393Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455367	NM_004632.4(DAP3):c.1183T>A (p.Cys395Ser)	DAP3 (C354S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683852	NM_004632.4(DAP3):c.1184G>A (p.Cys395Tyr)	DAP3 (C354Y +2 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685830	GRCh37/hg19 1q22(chr1:155426830-155708996)x3	ASH1L, DAP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685688	GRCh37/hg19 1q22(chr1:155587741-155728855)x1	DAP3, GON4L +1 more	Copy number loss	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425657	NC_000001.10:g.(?_155581953)_(155880552_?)del	DAP3, GON4L +4 more	Deletion	not provided	GPathogenic
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527293	GRCh37/hg19 1q22(chr1:155616264-156059947)	ARHGEF2, DAP3 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 685261	GRCh37/hg19 1q22(chr1:155381014-155746362)x3	ASH1L, DAP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 565182	GRCh37/hg19 1q22(chr1:155398816-155757026)x3	GON4L, YY1AP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253835	GRCh37/hg19 1q22(chr1:155412745-155755215)x3	YY1AP1, ASH1L +3 more	Copy number gain	See cases	GUncertain significance
Select item 2683853	NC_000001.11:g.(155747068_155747546)_(155611487_155611965)del	DAP3	Deletion	Perrault syndrome 1	GPathogenic

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Items: 89