ClinVar for Gene (Select 340481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334253	NM_178566.6(ZDHHC21):c.362C>A (p.Pro121Gln)	ZDHHC21 (P121Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334252	NM_178566.6(ZDHHC21):c.199G>A (p.Ala67Thr)	ZDHHC21 (A67T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192706	NM_178566.6(ZDHHC21):c.778C>T (p.His260Tyr)	ZDHHC21 (H163Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192705	NM_178566.6(ZDHHC21):c.751C>A (p.Gln251Lys)	ZDHHC21 (Q222K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192704	NM_178566.6(ZDHHC21):c.729C>G (p.Ile243Met)	ZDHHC21 (I243M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192703	NM_178566.6(ZDHHC21):c.410A>T (p.Gln137Leu)	ZDHHC21 (Q108L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685340	GRCh37/hg19 9p23-22.3(chr9:13036456-14661243)x1	MPDZ, NFIB +1 more	Copy number loss	not provided	GPathogenic
Select item 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684573	GRCh37/hg19 9p23-22.3(chr9:13844894-14657139)x3	NFIB, ZDHHC21	Copy number gain	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2618601	NM_178566.6(ZDHHC21):c.292A>G (p.Met98Val)	ZDHHC21 (M69V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527473	NM_178566.6(ZDHHC21):c.535A>G (p.Ile179Val)	ZDHHC21 (I179V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411548	NM_178566.6(ZDHHC21):c.445G>A (p.Ala149Thr)	ZDHHC21 (A120T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387114	NM_178566.6(ZDHHC21):c.497G>A (p.Arg166His)	ZDHHC21 (R166H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344212	NM_178566.6(ZDHHC21):c.719G>A (p.Arg240His)	ZDHHC21 (R240H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308005	NM_178566.6(ZDHHC21):c.673C>T (p.Pro225Ser)	ZDHHC21 (P196S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527509	GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960)	ADAMTSL1, BNC2 +20 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, BRD10 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, BRD10 +42 more	Copy number loss	not specified	GPathogenic
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	PTPRD, PUM3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 981213	GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1	BNC2, CCDC171 +7 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	TTC39B, TYRP1 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 815236	GRCh37/hg19 9p22.3(chr9:14670160-14871548)x1	ZDHHC21, FREM1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815235	GRCh37/hg19 9p22.3(chr9:14420900-15379492)x1	TTC39B, ZDHHC21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815234	GRCh37/hg19 9p23-22.3(chr9:13798726-14649846)x1	NFIB, ZDHHC21	Copy number loss	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	CCDC171, ACER2 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	ZDHHC21, ACER2 +61 more	Copy number gain	not provided	GPathogenic
Select item 563679	GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1	AK3, BRD10 +44 more	Copy number loss	not provided	GPathogenic
Select item 562132	GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1	NFIB, PSIP1 +9 more	Copy number loss	Oxycephaly +1 more	GPathogenic
Select item 562131	GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1	CCDC171, CER1 +10 more	Copy number loss	Turricephaly +1 more	GPathogenic
Select item 562130	GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1	SNAPC3, TTC39B +7 more	Copy number loss	Progressive macrocephaly +1 more	GPathogenic
Select item 562129	GRCh37/hg19 9p23-22.3(chr9:13034407-14653394)x1	MPDZ, NFIB +1 more	Copy number loss	Wide anterior fontanel +1 more	GPathogenic
Select item 562128	GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1	NFIB, ZDHHC21 +1 more	Copy number loss	Secondary microcephaly +1 more	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443225	GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1	AK3, BRD10 +32 more	Copy number loss	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442304	GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1	AK3, BNC2 +51 more	Copy number loss	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 441876	GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1	AK3, BNC2 +49 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 394262	GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1	PUM3, RANBP6 +50 more	Copy number loss	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149545	GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1	CER1, FREM1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic

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