ClinVar for Gene (Select 4799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	AQP7, ARHGEF39 +75 more	Duplication	not provided	GUncertain significance
Select item 3198697	NM_002504.6(NFX1):c.924G>C (p.Arg308Ser)	NFX1 (R308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198688	NM_002504.6(NFX1):c.60C>G (p.Phe20Leu)	NFX1 (F20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198685	NM_002504.6(NFX1):c.34A>G (p.Lys12Glu)	NFX1 (K12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198682	NM_002504.6(NFX1):c.3328G>C (p.Glu1110Gln)	NFX1 (E1111Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198677	NM_002504.6(NFX1):c.3308A>G (p.Asn1103Ser)	NFX1 (N1103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198670	NM_002504.6(NFX1):c.3160C>G (p.Arg1054Gly)	NFX1 (R1054G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198664	NM_002504.6(NFX1):c.2974A>G (p.Lys992Glu)	NFX1 (K993E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198661	NM_002504.6(NFX1):c.2845G>A (p.Glu949Lys)	NFX1 (E949K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198649	NM_002504.6(NFX1):c.244A>C (p.Ser82Arg)	NFX1 (S82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198622	NM_002504.6(NFX1):c.1895G>A (p.Cys632Tyr)	NFX1 (C632Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198609	NM_002504.6(NFX1):c.16C>A (p.Pro6Thr)	LOC126860613, NFX1 (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198592	NM_002504.6(NFX1):c.152C>T (p.Pro51Leu)	NFX1 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198563	NM_002504.6(NFX1):c.1018G>T (p.Val340Leu)	NFX1 (V340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198559	NM_002504.6(NFX1):c.1006G>A (p.Val336Met)	NFX1 (V336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2673172	NM_002504.6(NFX1):c.1638A>G (p.Val546=)	NFX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617949	NM_002504.6(NFX1):c.2428C>T (p.Arg810Trp)	NFX1 (R810W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608680	NM_002504.6(NFX1):c.1337A>G (p.Lys446Arg)	NFX1 (K446R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592475	NM_002504.6(NFX1):c.896A>G (p.Asn299Ser)	NFX1 (N299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560331	NM_002504.6(NFX1):c.1610C>T (p.Ser537Phe)	NFX1 (S537F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556821	NM_002504.6(NFX1):c.3055A>C (p.Lys1019Gln)	NFX1 (K1020Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544159	NM_002504.6(NFX1):c.1341A>T (p.Lys447Asn)	NFX1 (K447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521034	NM_002504.6(NFX1):c.1238C>T (p.Ala413Val)	NFX1 (A413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492930	NM_002504.6(NFX1):c.157C>T (p.Pro53Ser)	NFX1 (P53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481314	NM_002504.6(NFX1):c.1945G>A (p.Asp649Asn)	NFX1 (D649N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480723	NM_002504.6(NFX1):c.202G>C (p.Val68Leu)	NFX1 (V68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478410	NM_002504.6(NFX1):c.1582A>T (p.Asn528Tyr)	NFX1 (N528Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476844	NM_002504.6(NFX1):c.350G>C (p.Arg117Thr)	NFX1 (R117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458326	NM_002504.6(NFX1):c.3164A>G (p.Asn1055Ser)	NFX1 (N1056S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458057	NM_002504.6(NFX1):c.2576C>G (p.Pro859Arg)	NFX1 (P860R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	APTX, AQP3 +87 more	Duplication	not provided	GUncertain significance
Select item 2411494	NM_002504.6(NFX1):c.2345T>C (p.Val782Ala)	NFX1 (V782A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401409	NM_002504.6(NFX1):c.254C>T (p.Thr85Met)	NFX1 (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398859	NM_002504.6(NFX1):c.3196G>A (p.Val1066Ile)	NFX1 (V1066I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398424	NM_002504.6(NFX1):c.952C>T (p.Arg318Trp)	NFX1 (R318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377662	NM_002504.6(NFX1):c.224C>T (p.Pro75Leu)	NFX1 (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365722	NM_002504.6(NFX1):c.2824C>G (p.Gln942Glu)	NFX1 (Q942E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364960	NM_002504.6(NFX1):c.2694G>A (p.Met898Ile)	NFX1 (M898I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363109	NM_002504.6(NFX1):c.1405T>A (p.Cys469Ser)	NFX1 (C469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360129	NM_002504.6(NFX1):c.1485C>G (p.His495Gln)	NFX1 (H495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337459	NM_002504.6(NFX1):c.1799C>T (p.Pro600Leu)	NFX1 (P600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322595	NM_002504.6(NFX1):c.823A>G (p.Arg275Gly)	NFX1 (R275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320263	NM_002504.6(NFX1):c.1158A>G (p.Ile386Met)	NFX1 (I386M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292089	NM_002504.6(NFX1):c.134G>C (p.Arg45Thr)	NFX1 (R45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274351	NM_002504.6(NFX1):c.1511T>G (p.Leu504Trp)	NFX1 (L504W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262267	NM_002504.6(NFX1):c.2194C>T (p.Arg732Cys)	NFX1 (R733C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256880	NM_002504.6(NFX1):c.1633G>A (p.Asp545Asn)	NFX1 (D545N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254159	NM_002504.6(NFX1):c.1826G>A (p.Ser609Asn)	NFX1 (S609N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219088	NM_002504.6(NFX1):c.2086C>T (p.Arg696Trp)	NFX1 (R697W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205338	NM_002504.6(NFX1):c.140A>C (p.Asn47Thr)	NFX1 (N47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808791	GRCh37/hg19 9p21.1-13.3(chr9:33127803-33391202)x3	AQP7, B4GALT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808571	GRCh37/hg19 9p21.1-13.3(chr9:33127803-33398500)x3	AQP7, B4GALT1 +4 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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
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 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 1024707	NC_000009.11:g.(?_32399559)_(33541225_?)dup	CHMP5, DNAJA1 +16 more	Duplication	not provided	GUncertain significance
Select item 980344	GRCh37/hg19 9p21.1-13.3(chr9:33127802-33377822)x3	B4GALT1, BAG1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815259	GRCh37/hg19 9p21.1-13.3(chr9:33126394-33398500)x3	AQP7, SPINK4 +4 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 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 685515	GRCh37/hg19 9p21.1-13.3(chr9:33177135-33407576)x3	AQP7, BAG1 +3 more	Copy number gain	not provided	GUncertain significance
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 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
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 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 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +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	TRMT10B, TRPM3 +274 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +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 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	CHMP5, VLDLR +215 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	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic

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