80173[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	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	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 984954	NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA	IFT74	Indel (splice acceptor variant +2 more)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 1295135	NM_025103.4(IFT74):c.-19-111C>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2700445	NM_025103.4(IFT74):c.3G>A (p.Met1Ile)	IFT74 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3347121	NM_025103.4(IFT74):c.5C>T (p.Ala2Val)	IFT74 (A2V)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 3054820	NM_025103.4(IFT74):c.7A>G (p.Ser3Gly)	IFT74 (S3G)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 1348011	NM_025103.4(IFT74):c.11A>G (p.Asn4Ser)	IFT74 (N4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919430	NM_025103.4(IFT74):c.17A>G (p.Lys6Arg)	IFT74 (K6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996783	NM_025103.4(IFT74):c.23C>A (p.Ser8Ter)	IFT74 (S8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1966176	NM_025103.4(IFT74):c.27A>G (p.Ala9=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444693	NM_025103.4(IFT74):c.32G>T (p.Arg11Leu)	IFT74 (R11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345794	NM_025103.4(IFT74):c.34C>G (p.Pro12Ala)	IFT74 (P12A)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 2089689	NM_025103.4(IFT74):c.40T>A (p.Ser14Thr)	IFT74 (S14T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927101	NM_025103.4(IFT74):c.40T>G (p.Ser14Ala)	IFT74 (S14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014937	NM_025103.4(IFT74):c.42A>G (p.Ser14=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355778	NM_025103.4(IFT74):c.53T>C (p.Val18Ala)	IFT74 (V18A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406256	NM_025103.4(IFT74):c.56G>C (p.Gly19Ala)	IFT74 (G19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054783	NM_025103.4(IFT74):c.62C>T (p.Thr21Ile)	IFT74 (T21I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974235	NM_025103.4(IFT74):c.64G>T (p.Gly22Ter)	IFT74 (G22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1974397	NM_025103.4(IFT74):c.69del (p.Arg23fs)	IFT74 (R23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2104435	NM_025103.4(IFT74):c.69G>C (p.Arg23Ser)	IFT74 (R23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2553900	NM_025103.4(IFT74):c.76T>C (p.Ser26Pro)	IFT74 (S26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1415493	NM_025103.4(IFT74):c.76T>G (p.Ser26Ala)	IFT74 (S26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012243	NM_025103.4(IFT74):c.79G>C (p.Gly27Arg)	IFT74 (G27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991250	NM_025103.4(IFT74):c.79G>T (p.Gly27Trp)	IFT74 (G27W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2027244	NM_025103.4(IFT74):c.81G>T (p.Gly27=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059043	NM_025103.4(IFT74):c.85C>G (p.Arg29Gly)	IFT74 (R29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300252	NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)	IFT74	Single nucleotide variant (nonsense)	Joubert syndrome 40	GLikely pathogenic
Select item 1926846	NM_025103.4(IFT74):c.90C>G (p.Pro30=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300250	NM_025103.4(IFT74):c.92del (p.Leu31fs)	IFT74 (L31fs)	Deletion (frameshift variant)	Joubert syndrome 40	GPathogenic
Select item 1028870	NM_025103.4(IFT74):c.94T>C (p.Ser32Pro)	IFT74 (S32P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164189	NM_025103.4(IFT74):c.106C>T (p.Arg36Ter)	IFT74 (R36*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 446698	NM_025103.4(IFT74):c.120+2dup	IFT74	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1613515	NM_025103.4(IFT74):c.120+10A>C	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040939	NM_025103.4(IFT74):c.120+13C>G	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654789	NM_025103.4(IFT74):c.120+15A>T	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015252	NM_025103.4(IFT74):c.120+16A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635257	NM_025103.4(IFT74):c.120+20A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260983	NM_025103.4(IFT74):c.120+85C>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267150	NM_025103.4(IFT74):c.120+320C>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256755	NM_025103.4(IFT74):c.121-324A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1532755	NM_025103.4(IFT74):c.121-19A>C	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979633	NM_025103.4(IFT74):c.121-18A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3349607	NM_025103.4(IFT74):c.121-8T>A	IFT74	Single nucleotide variant (intron variant)	IFT74-related disorder	GLikely benign
Select item 1517508	NM_025103.4(IFT74):c.121-1G>T	IFT74	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3344775	NM_025103.4(IFT74):c.121A>G (p.Met41Val)	IFT74 (M41V)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 2151203	NM_025103.4(IFT74):c.123G>T (p.Met41Ile)	IFT74 (M41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2225409	NM_025103.4(IFT74):c.124C>A (p.Pro42Thr)	IFT74 (P42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2010233	NM_025103.4(IFT74):c.126A>G (p.Pro42=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053665	NM_025103.4(IFT74):c.131G>T (p.Gly44Val)	IFT74 (G44V)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 2081103	NM_025103.4(IFT74):c.132G>A (p.Gly44=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972957	NM_025103.4(IFT74):c.147T>C (p.Gly49=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926878	NM_025103.4(IFT74):c.149C>T (p.Ser50Phe)	IFT74 (S50F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2493085	NM_025103.4(IFT74):c.151C>T (p.Arg51Cys)	IFT74 (R51C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1415312	NM_025103.4(IFT74):c.152G>A (p.Arg51His)	IFT74 (R51H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3108456	NM_025103.4(IFT74):c.154G>A (p.Gly52Ser)	IFT74 (G52S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432809	NM_025103.4(IFT74):c.157T>C (p.Cys53Arg)	IFT74 (C53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3108457	NM_025103.4(IFT74):c.161C>T (p.Pro54Leu)	IFT74 (P54L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041894	NM_025103.4(IFT74):c.161C>G (p.Pro54Arg)	IFT74 (P54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684551	NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)	IFT74 (I55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1247882	NM_025103.4(IFT74):c.165A>G (p.Ile55Met)	IFT74 (I55M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1470233	NM_025103.4(IFT74):c.170C>T (p.Thr57Ile)	IFT74 (T57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192950	NM_025103.4(IFT74):c.173G>A (p.Gly58Asp)	IFT74 (G58D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1944186	NM_025103.4(IFT74):c.178G>T (p.Val60Phe)	IFT74 (V60F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1986849	NM_025103.4(IFT74):c.181C>T (p.Leu61=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358653	NM_025103.4(IFT74):c.192A>T (p.Gln64His)	IFT74 (Q64H)	Single nucleotide variant (missense variant)	IFT74-related disorder	GUncertain significance
Select item 1996703	NM_025103.4(IFT74):c.192A>G (p.Gln64=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182291	NM_025103.4(IFT74):c.201T>G (p.Val67=)	IFT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069790	NM_025103.4(IFT74):c.202G>T (p.Ala68Ser)	IFT74 (A68S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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