ClinVar for Gene (Select 6619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220330	NM_033222.5(PSIP1):c.1544A>G (p.Glu515Gly)	PSIP1, SNAPC3 (E515G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3166898	NM_001039697.2(SNAPC3):c.961A>G (p.Ile321Val)	SNAPC3 (I271V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3166896	NM_001039697.2(SNAPC3):c.29C>T (p.Thr10Met)	SNAPC3 (T10M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166895	NM_001039697.2(SNAPC3):c.1211A>G (p.Tyr404Cys)	SNAPC3 (Y349C +3 more)	Single nucleotide variant (missense variant +2 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	ABCA1, ABCA2 +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 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2613020	NM_033222.5(PSIP1):c.1546G>C (p.Glu516Gln)	PSIP1, SNAPC3 (E516Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609471	NM_001039697.2(SNAPC3):c.46G>A (p.Gly16Ser)	SNAPC3 (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607329	NM_001039697.2(SNAPC3):c.226G>T (p.Ala76Ser)	SNAPC3 (A76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605497	NM_001039697.2(SNAPC3):c.185C>T (p.Ser62Leu)	SNAPC3 (S62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602452	NM_001039697.2(SNAPC3):c.1100A>G (p.Asn367Ser)	SNAPC3 (N341S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555632	NM_001039697.2(SNAPC3):c.791A>C (p.Tyr264Ser)	SNAPC3 (Y214S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551453	NM_001039697.2(SNAPC3):c.26C>G (p.Pro9Arg)	SNAPC3 (P9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534146	NM_001039697.2(SNAPC3):c.296A>C (p.Glu99Ala)	SNAPC3 (E99A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468645	NM_001039697.2(SNAPC3):c.67G>A (p.Gly23Ser)	SNAPC3 (G23S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465145	NM_033222.5(PSIP1):c.1579A>G (p.Thr527Ala)	PSIP1, SNAPC3 (T527A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463074	NM_033222.5(PSIP1):c.1548G>C (p.Glu516Asp)	PSIP1, SNAPC3 (E516D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460378	NM_001039697.2(SNAPC3):c.727A>G (p.Ser243Gly)	SNAPC3 (S243G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411489	NM_001039697.2(SNAPC3):c.493G>A (p.Gly165Arg)	SNAPC3 (G165R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389628	NM_001039697.2(SNAPC3):c.1123G>A (p.Asp375Asn)	SNAPC3 (D375N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376085	NM_001039697.2(SNAPC3):c.217G>C (p.Gly73Arg)	SNAPC3 (G73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374785	NM_001039697.2(SNAPC3):c.200C>T (p.Pro67Leu)	SNAPC3 (P67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374487	NM_001039697.2(SNAPC3):c.34A>G (p.Ser12Gly)	SNAPC3 (S12G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334223	NM_001039697.2(SNAPC3):c.740A>T (p.Tyr247Phe)	SNAPC3 (Y197F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319047	NM_001039697.2(SNAPC3):c.981G>C (p.Arg327Ser)	SNAPC3 (R272S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289545	NM_001039697.2(SNAPC3):c.872C>A (p.Ala291Asp)	SNAPC3 (A265D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281908	NM_001039697.2(SNAPC3):c.610A>G (p.Met204Val)	SNAPC3 (M204V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273781	NM_001039697.2(SNAPC3):c.1067T>C (p.Val356Ala)	SNAPC3 (V330A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253051	NM_001039697.2(SNAPC3):c.1114G>C (p.Ala372Pro)	SNAPC3 (A346P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241722	NM_001039697.2(SNAPC3):c.434C>T (p.Thr145Ile)	SNAPC3 (T145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225919	NM_001039697.2(SNAPC3):c.1205A>T (p.Tyr402Phe)	SNAPC3 (Y352F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808355	GRCh37/hg19 9p22.3(chr9:15241646-15504917)x3	PSIP1, SNAPC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808310	GRCh37/hg19 9p22.3(chr9:15337857-15547347)x1	PSIP1, SNAPC3	Copy number loss	not provided	GUncertain significance
Select item 1808046	GRCh37/hg19 9p22.3-21.3(chr9:15328600-20821644)x3	ACER2, ADAMTSL1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +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)	RIGI, RLN1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +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 1341030	GRCh37/hg19 9p22.3(chr9:15451822-15543074)x1	PSIP1, SNAPC3	Copy number loss	not provided	GUncertain significance
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	ADAMTSL1, AK3 +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	AK3, BNC2 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 815238	GRCh37/hg19 9p22.3(chr9:15241645-15504916)x3	TTC39B, SNAPC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	TPD52L3, IL33 +51 more	Copy number loss	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	MLANA, ZDHHC21 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +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	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ACER2, ACO1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ANKRD18B, APTX +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	ACER2, ADAMTSL1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	TTC39B, SNAPC3 +61 more	Copy number gain	not provided	GPathogenic
Select item 563649	GRCh37/hg19 9p22.3(chr9:14879869-15543074)x3	PSIP1, FREM1 +2 more	Copy number gain	not provided	GUncertain significance
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 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)	SUSD3, SVEP1 +769 more	Copy number gain	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	SPATA6L, TPD52L3 +49 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	ACER2, ACO1 +197 more	Copy number gain	See cases	GPathogenic
Select item 394262	GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1	AK3, BNC2 +50 more	Copy number loss	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ARID3C, ATOSB +215 more	Copy number gain	See cases	GPathogenic
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	CD274, RLN1 +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	ACO1, ADAMTSL1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	HRCT1, IFNA1 +882 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	INSL4, INSL6 +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

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