RASGEF1C[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2531600	NM_175062.4(RASGEF1C):c.1304G>A (p.Gly435Asp)	RASGEF1C (G435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151811	NM_175062.4(RASGEF1C):c.1261A>G (p.Ile421Val)	RASGEF1C (I421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312915	NM_175062.4(RASGEF1C):c.1254C>G (p.Asp418Glu)	RASGEF1C (D418E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318780	NM_175062.4(RASGEF1C):c.1051C>T (p.Arg351Cys)	RASGEF1C (R351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151810	NM_175062.4(RASGEF1C):c.1043C>T (p.Ala348Val)	RASGEF1C (A348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290583	NM_175062.4(RASGEF1C):c.1004C>T (p.Thr335Met)	RASGEF1C (T335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466161	NM_175062.4(RASGEF1C):c.877G>A (p.Gly293Ser)	RASGEF1C (G293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151817	NM_175062.4(RASGEF1C):c.871A>G (p.Asn291Asp)	RASGEF1C (N291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151816	NM_175062.4(RASGEF1C):c.859C>T (p.Arg287Cys)	RASGEF1C (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312912	NM_175062.4(RASGEF1C):c.724A>G (p.Ser242Gly)	RASGEF1C (S242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151815	NM_175062.4(RASGEF1C):c.701T>G (p.Leu234Arg)	RASGEF1C (L234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602841	NM_175062.4(RASGEF1C):c.650G>A (p.Arg217Gln)	RASGEF1C (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151814	NM_175062.4(RASGEF1C):c.649C>T (p.Arg217Trp)	RASGEF1C (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217741	NM_175062.4(RASGEF1C):c.619C>G (p.Gln207Glu)	RASGEF1C (Q207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260255	NM_175062.4(RASGEF1C):c.614C>T (p.Ala205Val)	RASGEF1C (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339963	NM_175062.4(RASGEF1C):c.613G>T (p.Ala205Ser)	RASGEF1C (A205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238881	NM_175062.4(RASGEF1C):c.598G>A (p.Asp200Asn)	RASGEF1C (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151813	NM_175062.4(RASGEF1C):c.500G>A (p.Arg167His)	RASGEF1C (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312917	NM_175062.4(RASGEF1C):c.491C>A (p.Ala164Glu)	RASGEF1C (A164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340389	NM_175062.4(RASGEF1C):c.481C>G (p.Gln161Glu)	RASGEF1C (Q161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151812	NM_175062.4(RASGEF1C):c.445C>G (p.Arg149Gly)	RASGEF1C (R149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312918	NM_175062.4(RASGEF1C):c.399C>G (p.His133Gln)	RASGEF1C (H133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567930	NM_175062.4(RASGEF1C):c.397C>A (p.His133Asn)	RASGEF1C (H133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342709	NM_175062.4(RASGEF1C):c.175G>A (p.Glu59Lys)	RASGEF1C (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329283	NM_175062.4(RASGEF1C):c.145C>T (p.His49Tyr)	RASGEF1C (H49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293060	NM_175062.4(RASGEF1C):c.133A>G (p.Thr45Ala)	RASGEF1C (T45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312913	NM_175062.4(RASGEF1C):c.131A>T (p.Glu44Val)	RASGEF1C (E44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369720	NM_175062.4(RASGEF1C):c.94C>T (p.Pro32Ser)	RASGEF1C (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299148	NM_175062.4(RASGEF1C):c.59C>A (p.Pro20His)	RASGEF1C (P20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312914	NM_175062.4(RASGEF1C):c.29T>C (p.Met10Thr)	RASGEF1C (M10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062874	GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	C5orf60, CANX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684438	GRCh37/hg19 5q35.3(chr5:179565253-180051586)x3	CNOT6, FLT4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809056	GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527211	GRCh37/hg19 5q35.3(chr5:179217944-179694141)	LTC4S, MAPK9 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527209	GRCh37/hg19 5q35.3(chr5:178860745-179534363)	C5orf60, CANX +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979543	GRCh37/hg19 5q35.3(chr5:179522222-179952028)x3	CNOT6, RASGEF1C +2 more	Copy number gain	not provided	GUncertain significance
Select item 979540	GRCh37/hg19 5q35.3(chr5:179528704-179860433)x1	MAPK9, GFPT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 973605	GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1	GFPT2, MAPK9 +1 more	Copy number loss	Intellectual disability	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 635776	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	MGAT4B, MRNIP +9 more	Copy number gain	Sensorineural hearing loss disorder	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563136	GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3	GFPT2, SQSTM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563134	GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394398	GRCh37/hg19 5q35.3(chr5:179275350-179563401)x3	MRNIP, RASGEF1C +2 more	Copy number gain	See cases	GLikely benign
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 74