ClinVar for Gene (Select 5923) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312926	NM_001145648.3(RASGRF1):c.2272G>A (p.Ala758Thr)	LOC126862187, RASGRF1 (A774T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312925	NM_001145648.3(RASGRF1):c.571A>T (p.Thr191Ser)	RASGRF1 (T191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312924	NM_001145648.3(RASGRF1):c.3655G>A (p.Ala1219Thr)	RASGRF1 (A451T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312923	NM_001145648.3(RASGRF1):c.239A>G (p.Lys80Arg)	RASGRF1 (K80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312922	NM_001145648.3(RASGRF1):c.2428C>A (p.Pro810Thr)	LOC126862187, RASGRF1 (P42T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312921	NM_001145648.3(RASGRF1):c.729G>C (p.Gln243His)	RASGRF1 (Q243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312920	NM_001145648.3(RASGRF1):c.3020C>T (p.Thr1007Met)	RASGRF1 (T239M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312919	NM_001145648.3(RASGRF1):c.3245T>C (p.Ile1082Thr)	LOC100129540, RASGRF1 (I314T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3151833	NM_001145648.3(RASGRF1):c.856G>A (p.Val286Ile)	RASGRF1 (V286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151832	NM_001145648.3(RASGRF1):c.812G>A (p.Arg271Gln)	RASGRF1 (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151831	NM_001145648.3(RASGRF1):c.3746T>A (p.Leu1249His)	RASGRF1 (L1265H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151830	NM_001145648.3(RASGRF1):c.3185A>G (p.Tyr1062Cys)	RASGRF1 (Y1062C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151829	NM_001145648.3(RASGRF1):c.2827C>T (p.Arg943Cys)	RASGRF1 (R175C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151828	NM_001145648.3(RASGRF1):c.2717A>C (p.Lys906Thr)	RASGRF1 (K138T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151827	NM_001145648.3(RASGRF1):c.2654C>T (p.Ser885Leu)	RASGRF1 (S117L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151826	NM_001145648.3(RASGRF1):c.251C>G (p.Ser84Trp)	RASGRF1 (S84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151825	NM_001145648.3(RASGRF1):c.2378C>T (p.Thr793Ile)	LOC126862187, RASGRF1 (T809I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151823	NM_001145648.3(RASGRF1):c.2305A>G (p.Met769Val)	LOC126862187, RASGRF1 (M769V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151822	NM_001145648.3(RASGRF1):c.2134C>T (p.Pro712Ser)	LOC126862187, RASGRF1 (P712S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151821	NM_001145648.3(RASGRF1):c.2102G>A (p.Gly701Asp)	LOC126862187, RASGRF1 (G717D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151820	NM_001145648.3(RASGRF1):c.2017G>A (p.Val673Met)	RASGRF1 (V686M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151819	NM_001145648.3(RASGRF1):c.1616C>T (p.Ser539Phe)	RASGRF1 (S539F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151818	NM_001145648.3(RASGRF1):c.133G>A (p.Ala45Thr)	RASGRF1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684763	GRCh37/hg19 15q25.1(chr15:78939575-79274138)x3	ADAMTS7, CTSH +2 more	Copy number gain	not provided	GUncertain significance
Select item 2645625	NM_001145648.3(RASGRF1):c.33C>T (p.His11=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645624	NM_001145648.3(RASGRF1):c.849C>T (p.His283=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618071	NM_001145648.3(RASGRF1):c.31C>A (p.His11Asn)	RASGRF1 (H11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616233	NM_001145648.3(RASGRF1):c.2917G>A (p.Asp973Asn)	RASGRF1 (D205N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604334	NM_001145648.3(RASGRF1):c.2615C>G (p.Thr872Ser)	RASGRF1 (T872S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598433	NM_001145648.3(RASGRF1):c.2131C>G (p.Pro711Ala)	LOC126862187, RASGRF1 (P711A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592773	NM_001145648.3(RASGRF1):c.2422G>A (p.Glu808Lys)	LOC126862187, RASGRF1 (E824K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2521204	NM_001145648.3(RASGRF1):c.2144C>T (p.Pro715Leu)	LOC126862187, RASGRF1 (P731L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509340	NM_001145648.3(RASGRF1):c.2398G>A (p.Gly800Ser)	LOC126862187, RASGRF1 (G32S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2468400	NM_001145648.3(RASGRF1):c.236C>A (p.Pro79His)	RASGRF1 (P79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464468	NM_001145648.3(RASGRF1):c.2659G>A (p.Ala887Thr)	RASGRF1 (A887T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454609	NM_001145648.3(RASGRF1):c.3307A>G (p.Ile1103Val)	LOC100129540, RASGRF1 (I335V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 2397962	NM_001145648.3(RASGRF1):c.2198C>T (p.Ser733Leu)	LOC126862187, RASGRF1 (S733L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374434	NM_001145648.3(RASGRF1):c.1061G>A (p.Arg354His)	RASGRF1 (R354H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356247	NM_001145648.3(RASGRF1):c.3749G>A (p.Arg1250Gln)	RASGRF1 (R482Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337899	NM_001145648.3(RASGRF1):c.2962A>G (p.Ile988Val)	RASGRF1 (I220V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336548	NM_001145648.3(RASGRF1):c.3737A>G (p.Glu1246Gly)	RASGRF1 (E1246G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335124	NM_001145648.3(RASGRF1):c.589A>G (p.Asn197Asp)	RASGRF1 (N197D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333709	NM_001145648.3(RASGRF1):c.2193G>C (p.Lys731Asn)	LOC126862187, RASGRF1 (K731N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332823	NM_001145648.3(RASGRF1):c.2312C>T (p.Ser771Leu)	LOC126862187, RASGRF1 (S771L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300715	NM_001145648.3(RASGRF1):c.3422C>T (p.Ala1141Val)	LOC100129540, RASGRF1 (A1141V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260944	NM_001145648.3(RASGRF1):c.1760G>A (p.Arg587Gln)	RASGRF1 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258667	NM_001145648.3(RASGRF1):c.3062A>T (p.His1021Leu)	RASGRF1 (H1037L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248476	NM_001145648.3(RASGRF1):c.1730G>A (p.Ser577Asn)	RASGRF1 (S577N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240459	NM_001145648.3(RASGRF1):c.1450C>G (p.Leu484Val)	RASGRF1 (L484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224243	NM_001145648.3(RASGRF1):c.1783G>A (p.Ala595Thr)	RASGRF1 (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 790325	NM_001145648.3(RASGRF1):c.2401G>A (p.Asp801Asn)	LOC126862187, RASGRF1 (D33N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787183	NM_001145648.3(RASGRF1):c.108C>T (p.Asn36=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 778569	NM_001145648.3(RASGRF1):c.3354G>A (p.Ser1118=)	LOC100129540, RASGRF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 777699	NM_001145648.3(RASGRF1):c.1815G>A (p.Pro605=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774714	NM_001145648.3(RASGRF1):c.1617C>T (p.Ser539=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773748	NM_001145648.3(RASGRF1):c.1743+10G>A	RASGRF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773298	NM_001145648.3(RASGRF1):c.3735C>T (p.Tyr1245=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771008	NM_001145648.3(RASGRF1):c.2207G>A (p.Ser736Asn)	RASGRF1, LOC126862187 (S752N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 771007	NM_001145648.3(RASGRF1):c.2400C>T (p.Gly800=)	LOC126862187, RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752420	NM_001145648.3(RASGRF1):c.2922G>A (p.Pro974=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747327	NM_001145648.3(RASGRF1):c.3480A>G (p.Arg1160=)	LOC100129540, RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746297	NM_001145648.3(RASGRF1):c.2148C>T (p.Arg716=)	LOC126862187, RASGRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734853	NM_001145648.3(RASGRF1):c.1044C>T (p.Ala348=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733767	NM_001145648.3(RASGRF1):c.532-10G>T	RASGRF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733668	NM_001145648.3(RASGRF1):c.2886G>A (p.Lys962=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728799	NM_001145648.3(RASGRF1):c.3276C>T (p.Ser1092=)	LOC100129540, RASGRF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 724547	NM_001145648.3(RASGRF1):c.2124C>T (p.Tyr708=)	LOC126862187, RASGRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714663	NM_001145648.3(RASGRF1):c.1299C>A (p.Ile433=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713638	NM_001145648.3(RASGRF1):c.2685C>T (p.Ala895=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711632	NM_001145648.3(RASGRF1):c.2405C>T (p.Thr802Met)	LOC126862187, RASGRF1 (T818M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711631	NM_001145648.3(RASGRF1):c.3036C>T (p.Gly1012=)	RASGRF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686584	GRCh37/hg19 15q25.1(chr15:79239511-79874885)x3	ANKRD34C, MINAR1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 545596	NM_001145648.3(RASGRF1):c.1523G>T (p.Gly508Val)	RASGRF1 (G508V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545595	NM_001145648.3(RASGRF1):c.604G>A (p.Asp202Asn)	RASGRF1 (D202N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93