ClinVar for Gene (Select 84904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313888	NM_032818.3(ARHGEF39):c.376G>A (p.Gly126Ser)	ARHGEF39 (G126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313878	NM_032818.3(ARHGEF39):c.778C>T (p.Pro260Ser)	ARHGEF39 (P260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313867	NM_032818.3(ARHGEF39):c.699G>T (p.Trp233Cys)	ARHGEF39 (W233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263774	NM_174923.3(CCDC107):c.617C>G (p.Pro206Arg)	ARHGEF39, CCDC107 (P206R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263772	NM_174923.3(CCDC107):c.488G>T (p.Ser163Ile)	ARHGEF39, CCDC107 (S163I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263771	NM_174923.3(CCDC107):c.466A>G (p.Ile156Val)	ARHGEF39, CCDC107 (I156V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263770	NM_174923.3(CCDC107):c.749G>A (p.Arg250Gln)	ARHGEF39, CCDC107 (R250Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3138242	NM_174923.3(CCDC107):c.674C>T (p.Ala225Val)	ARHGEF39, CCDC107 (A225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138241	NM_174923.3(CCDC107):c.520C>T (p.Pro174Ser)	ARHGEF39, CCDC107 (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138240	NM_174923.3(CCDC107):c.421C>G (p.Leu141Val)	ARHGEF39, CCDC107 (L141V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129326	NM_032818.3(ARHGEF39):c.797T>A (p.Leu266Gln)	ARHGEF39 (L266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129325	NM_032818.3(ARHGEF39):c.68G>A (p.Arg23His)	ARHGEF39 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129324	NM_032818.3(ARHGEF39):c.625C>T (p.Arg209Cys)	ARHGEF39 (R209C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129323	NM_032818.3(ARHGEF39):c.580G>C (p.Val194Leu)	ARHGEF39 (V194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129322	NM_032818.3(ARHGEF39):c.579A>T (p.Arg193Ser)	ARHGEF39 (R193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129321	NM_032818.3(ARHGEF39):c.563G>A (p.Ser188Asn)	ARHGEF39 (S188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129320	NM_032818.3(ARHGEF39):c.520A>T (p.Ser174Cys)	ARHGEF39 (S174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129319	NM_032818.3(ARHGEF39):c.23C>G (p.Ser8Trp)	ARHGEF39 (S8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2615840	NM_174923.3(CCDC107):c.507G>A (p.Met169Ile)	ARHGEF39, CCDC107 (M169I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603885	NM_174923.3(CCDC107):c.418A>G (p.Thr140Ala)	ARHGEF39, CCDC107 (T140A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595112	NM_174923.3(CCDC107):c.406G>A (p.Glu136Lys)	ARHGEF39, CCDC107 (E136K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594265	NM_032818.3(ARHGEF39):c.482A>G (p.Asn161Ser)	ARHGEF39 (N161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591381	NM_032818.3(ARHGEF39):c.781C>T (p.Arg261Trp)	ARHGEF39 (R261W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589957	NM_174923.3(CCDC107):c.508G>A (p.Glu170Lys)	ARHGEF39, CCDC107 (E170K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589384	NM_032818.3(ARHGEF39):c.988A>G (p.Ile330Val)	ARHGEF39 (I330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588135	NM_174923.3(CCDC107):c.837A>T (p.Gln279His)	ARHGEF39, CCDC107 (Q279H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547723	NM_032818.3(ARHGEF39):c.923A>T (p.Lys308Met)	ARHGEF39 (K308M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547722	NM_032818.3(ARHGEF39):c.406G>A (p.Gly136Ser)	ARHGEF39 (G136S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543653	NM_032818.3(ARHGEF39):c.42G>T (p.Glu14Asp)	ARHGEF39 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528713	NM_032818.3(ARHGEF39):c.812C>T (p.Thr271Ile)	ARHGEF39 (T271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524671	NM_032818.3(ARHGEF39):c.530A>G (p.His177Arg)	ARHGEF39 (H177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520387	NM_032818.3(ARHGEF39):c.664C>G (p.Leu222Val)	ARHGEF39 (L222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515048	NM_032818.3(ARHGEF39):c.650G>A (p.Arg217His)	ARHGEF39 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490447	NM_174923.3(CCDC107):c.336G>C (p.Gln112His)	ARHGEF39, CCDC107 (Q112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456822	NM_174923.3(CCDC107):c.790A>T (p.Ser264Cys)	ARHGEF39, CCDC107 (S237C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2399863	NM_174923.3(CCDC107):c.343C>G (p.Gln115Glu)	ARHGEF39, CCDC107 (Q115E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394946	NM_174923.3(CCDC107):c.533C>T (p.Ser178Leu)	ARHGEF39, CCDC107 (S178L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2392682	NM_174923.3(CCDC107):c.491A>G (p.Lys164Arg)	ARHGEF39, CCDC107 (K164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376629	NM_032818.3(ARHGEF39):c.439G>A (p.Asp147Asn)	ARHGEF39 (D147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347105	NM_174923.3(CCDC107):c.353C>G (p.Ala118Gly)	ARHGEF39, CCDC107 (A118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346680	NM_174923.3(CCDC107):c.409C>T (p.Arg137Cys)	ARHGEF39, CCDC107 (R137W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319482	NM_032818.3(ARHGEF39):c.320C>T (p.Ala107Val)	ARHGEF39 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318200	NM_032818.3(ARHGEF39):c.387G>T (p.Arg129Ser)	ARHGEF39 (R129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260844	NM_032818.3(ARHGEF39):c.79G>T (p.Ala27Ser)	ARHGEF39 (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259180	NM_174923.3(CCDC107):c.503A>C (p.Asp168Ala)	ARHGEF39, CCDC107 (D168A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204454	NM_032818.3(ARHGEF39):c.603G>T (p.Gln201His)	ARHGEF39 (Q201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204310	NM_032818.3(ARHGEF39):c.19G>A (p.Gly7Ser)	ARHGEF39 (G7S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +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 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 1289970	NC_000009.12:g.35661946A>C	ARHGEF39, CCDC107 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39, ATOSB +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	ARHGEF39, ARID3C +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
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 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	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 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
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 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	ARHGEF39, ARID3C +48 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +1 more	GUncertain significance
Select item 583851	NC_000009.11:g.(?_34458984)_(35809462_?)del	PIGO, RGP1 +37 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
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 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 473211	NC_000009.11:g.(?_34458984)_(35809462_?)dup	NPR2, TLN1 +37 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +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 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 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +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	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	ACER2, ACO1 +899 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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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

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