ClinVar for Gene (Select 8874) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129385	NM_001354046.2(ARHGEF7):c.581G>A (p.Arg194His)	ARHGEF7 (R194H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129384	NM_001354046.2(ARHGEF7):c.554C>T (p.Ser185Leu)	ARHGEF7 (S113L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129383	NM_001354046.2(ARHGEF7):c.430C>T (p.Arg144Trp)	ARHGEF7 (R144W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129382	NM_001354046.2(ARHGEF7):c.370C>G (p.Arg124Gly)	ARHGEF7 (R95G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129381	NM_001354046.2(ARHGEF7):c.2258C>T (p.Ser753Phe)	ARHGEF7 (S774F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129380	NM_001354046.2(ARHGEF7):c.191G>T (p.Ser64Ile)	ARHGEF7, LOC130010153 (S64I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129379	NM_001354046.2(ARHGEF7):c.1675A>G (p.Thr559Ala)	ARHGEF7, LOC126861861 (T487A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129378	NM_001354046.2(ARHGEF7):c.1605A>G (p.Ile535Met)	ARHGEF7, LOC126861861 (I453M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129377	NM_001354046.2(ARHGEF7):c.1601G>A (p.Arg534Gln)	ARHGEF7, LOC126861861 (R253Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129376	NM_001354046.2(ARHGEF7):c.1252G>T (p.Ala418Ser)	ARHGEF7 (A336S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2618414	NM_001354046.2(ARHGEF7):c.254C>T (p.Thr85Met)	ARHGEF7 (T106M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610921	NM_001354046.2(ARHGEF7):c.676C>G (p.Pro226Ala)	ARHGEF7 (P197A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610053	NM_001354046.2(ARHGEF7):c.2303C>G (p.Ser768Cys)	ARHGEF7 (S696C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604829	NM_001354046.2(ARHGEF7):c.1780C>T (p.Pro594Ser)	ARHGEF7 (P313S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2539457	NM_001354046.2(ARHGEF7):c.146T>G (p.Leu49Arg)	ARHGEF7, ARHGEF7-AS2 (L49R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2526044	NM_001354046.2(ARHGEF7):c.1792G>T (p.Ala598Ser)	ARHGEF7 (A363S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493719	NM_001354046.2(ARHGEF7):c.368C>T (p.Ala123Val)	ARHGEF7 (A144V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472602	NM_001354046.2(ARHGEF7):c.1832C>T (p.Pro611Leu)	ARHGEF7 (P454L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472580	NM_001354046.2(ARHGEF7):c.943T>C (p.Cys315Arg)	ARHGEF7 (C315R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456802	NM_001354046.2(ARHGEF7):c.1667C>T (p.Thr556Met)	ARHGEF7, LOC126861861 (T484M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405448	NM_001354046.2(ARHGEF7):c.1273G>A (p.Ala425Thr)	ARHGEF7 (A190T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396948	NM_001354046.2(ARHGEF7):c.1325C>T (p.Thr442Met)	ARHGEF7 (T207M +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394532	NM_001354046.2(ARHGEF7):c.406C>T (p.Leu136Phe)	ARHGEF7 (L157F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371565	NM_001354046.2(ARHGEF7):c.460C>T (p.Arg154Trp)	ARHGEF7 (R154W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362705	NM_001354046.2(ARHGEF7):c.1811A>C (p.His604Pro)	ARHGEF7 (H522P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350696	NM_001354046.2(ARHGEF7):c.178C>G (p.Pro60Ala)	ARHGEF7, LOC130010153 (P60A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314788	NM_001354046.2(ARHGEF7):c.1106G>C (p.Gly369Ala)	ARHGEF7 (G212A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300612	NM_001354046.2(ARHGEF7):c.824C>T (p.Thr275Met)	ARHGEF7 (T118M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271401	NM_001354046.2(ARHGEF7):c.187G>C (p.Glu63Gln)	ARHGEF7, LOC130010153 (E63Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262899	NM_001354046.2(ARHGEF7):c.1331C>A (p.Ala444Asp)	ARHGEF7 (A209D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252486	NM_001354046.2(ARHGEF7):c.497T>G (p.Leu166Arg)	ARHGEF7 (L166R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249814	NM_001354046.2(ARHGEF7):c.1006A>G (p.Met336Val)	ARHGEF7 (M357V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210483	NM_001354046.2(ARHGEF7):c.680T>C (p.Val227Ala)	ARHGEF7 (V70A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 1333006	Single allele	ANKRD10, ANKRD10-IT1 +17 more	Deletion	Factor X deficiency +1 more	GLikely pathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979998	GRCh37/hg19 13q34(chr13:111374280-112537874)x3	ANKRD10, ANKRD10-IT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979995	GRCh37/hg19 13q33.3-34(chr13:109752674-112352804)x1	LINC00567, ANKRD10-IT1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 790371	NM_001354046.2(ARHGEF7):c.591G>C (p.Glu197Asp)	ARHGEF7 (E125D +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783681	NM_001354046.2(ARHGEF7):c.1062C>G (p.Leu354=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773554	NM_001354046.2(ARHGEF7):c.1459T>C (p.Leu487=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769399	NM_001354046.2(ARHGEF7):c.669C>T (p.Ser223=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768634	NM_001354046.2(ARHGEF7):c.1776C>T (p.Pro592=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749238	NM_001354046.2(ARHGEF7):c.85G>A (p.Gly29Ser)	ARHGEF7, ARHGEF7-AS2 (G29S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 748152	NM_001354046.2(ARHGEF7):c.40C>T (p.Leu14=)	ARHGEF7, ARHGEF7-AS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 744380	NM_001354046.2(ARHGEF7):c.252+5092T>G	ARHGEF7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 737780	NM_001354046.2(ARHGEF7):c.924C>T (p.Leu308=)	ARHGEF7 (R8C)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737340	NM_001354046.2(ARHGEF7):c.975C>T (p.Val325=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732663	NM_001354046.2(ARHGEF7):c.2178T>C (p.Asp726=)	ARHGEF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 726686	NM_001354046.2(ARHGEF7):c.1668G>A (p.Thr556=)	ARHGEF7, LOC126861861	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720961	NM_001354046.2(ARHGEF7):c.1905G>A (p.Arg635=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718926	NM_001354046.2(ARHGEF7):c.463A>T (p.Ser155Cys)	ARHGEF7 (S155C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 718528	NM_001354046.2(ARHGEF7):c.2031C>T (p.Phe677=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716380	NM_001354046.2(ARHGEF7):c.1026G>A (p.Thr342=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712142	NM_001354046.2(ARHGEF7):c.1911G>A (p.Ala637=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 707928	NM_001354046.2(ARHGEF7):c.1908C>T (p.Pro636=)	ARHGEF7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688701	GRCh37/hg19 13q34(chr13:111846270-111877000)x1	ARHGEF7	Copy number loss	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic

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