RXFP1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 3157274	NM_021634.4(RXFP1):c.67C>G (p.Gln23Glu)	RXFP1 (Q23E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 149528	GRCh38/hg38 4q32.1(chr4:158598730-160080941)x3	C4orf46, ETFDH +31 more	Copy number gain	See cases	GUncertain significance
Select item 2215893	NM_021634.4(RXFP1):c.292G>A (p.Gly98Ser)	RXFP1 (G98S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2312635	NM_021634.4(RXFP1):c.308A>C (p.Gln103Pro)	RXFP1 (Q70P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157272	NM_021634.4(RXFP1):c.356G>A (p.Arg119Gln)	RXFP1 (R86Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157273	NM_021634.4(RXFP1):c.411A>C (p.Leu137Phe)	RXFP1 (L104F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568826	NM_021634.4(RXFP1):c.635G>A (p.Arg212Gln)	RXFP1 (R239Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324327	NM_021634.4(RXFP1):c.697G>T (p.Val233Phe)	RXFP1 (V233F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157275	NM_021634.4(RXFP1):c.698T>A (p.Val233Asp)	RXFP1 (V101D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342232	NM_021634.4(RXFP1):c.734A>G (p.His245Arg)	RXFP1 (H113R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359879	NM_021634.4(RXFP1):c.738G>A (p.Met246Ile)	RXFP1 (M114I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974730	NG_031835.1(PPID):g.103322_138659del	LOC123493226, RXFP1 +3 more	Deletion	Megacolon	GUncertain significance
Select item 2515910	NM_021634.4(RXFP1):c.935C>T (p.Pro312Leu)	RXFP1 (P182L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542969	NM_021634.4(RXFP1):c.973A>G (p.Asn325Asp)	RXFP1 (N292D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297552	NM_021634.4(RXFP1):c.1085T>C (p.Met362Thr)	RXFP1 (M281T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527966	NM_021634.4(RXFP1):c.1100T>A (p.Met367Lys)	RXFP1 (M319K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402253	NM_021634.4(RXFP1):c.1378G>A (p.Val460Met)	RXFP1 (V304M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157265	NM_021634.4(RXFP1):c.1417A>G (p.Asn473Asp)	RXFP1 (N317D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157266	NM_021634.4(RXFP1):c.1438A>T (p.Met480Leu)	RXFP1 (M324L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231737	NM_021634.4(RXFP1):c.1462G>T (p.Val488Leu)	RXFP1 (V332L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330099	NM_021634.4(RXFP1):c.1519A>T (p.Thr507Ser)	RXFP1 (T351S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243753	NM_021634.4(RXFP1):c.1670A>G (p.Tyr557Cys)	RXFP1 (Y425C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236758	NM_021634.4(RXFP1):c.1726G>T (p.Ala576Ser)	RXFP1 (A603S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556468	NM_021634.4(RXFP1):c.1732A>T (p.Ile578Phe)	RXFP1 (I447F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551805	NM_021634.4(RXFP1):c.1886G>A (p.Arg629His)	RXFP1 (R497H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590407	NM_021634.4(RXFP1):c.1962G>T (p.Gln654His)	RXFP1 (Q523H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157268	NM_021634.4(RXFP1):c.1994T>C (p.Val665Ala)	RXFP1 (V632A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655158	NM_021634.4(RXFP1):c.2049G>T (p.Leu683=)	RXFP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3157269	NM_021634.4(RXFP1):c.2155T>C (p.Trp719Arg)	RXFP1 (W587R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157270	NM_021634.4(RXFP1):c.2204C>T (p.Pro735Leu)	RXFP1 (P604L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393153	NM_021634.4(RXFP1):c.2214C>A (p.Phe738Leu)	RXFP1 (F606L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157271	NM_021634.4(RXFP1):c.2251A>G (p.Thr751Ala)	RXFP1 (T619A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062776	GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1	C4orf46, ETFDH +6 more	Copy number loss	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1808169	GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3	C4orf46, ETFDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 685090	GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1	GRIA2, PPID +9 more	Copy number loss	not provided	GUncertain significance
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 562988	GRCh37/hg19 4q32.1(chr4:159292100-159516118)x3	RXFP1	Copy number gain	not provided	GUncertain significance
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	FNIP2, MSMO1 +60 more	Copy number gain	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253927	GRCh37/hg19 4q32.1(chr4:159047068-159600690)x3	C4orf46, ETFDH +3 more	Copy number gain	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 71