RPF2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2373025	NM_032194.3(RPF2):c.7A>G (p.Thr3Ala)	RPF2 (T3A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2310043	NM_032194.3(RPF2):c.54C>G (p.Phe18Leu)	RPF2 (F18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155977	NM_032194.3(RPF2):c.86A>G (p.Asn29Ser)	RPF2 (N29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155971	NM_032194.3(RPF2):c.115G>A (p.Gly39Arg)	RPF2 (G39R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 776145	NM_032194.3(RPF2):c.178G>A (p.Gly60Ser)	RPF2 (G60S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2257076	NM_032194.3(RPF2):c.295C>T (p.Arg99Trp)	RPF2 (R36W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155972	NM_032194.3(RPF2):c.332A>G (p.Tyr111Cys)	RPF2 (Y48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155973	NM_032194.3(RPF2):c.433T>C (p.Phe145Leu)	RPF2 (F145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559557	NM_032194.3(RPF2):c.455T>G (p.Val152Gly)	RPF2 (V152G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463253	NM_032194.3(RPF2):c.469A>G (p.Arg157Gly)	RPF2 (R157G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330065	NM_032194.3(RPF2):c.517T>C (p.Ser173Pro)	RPF2 (S110P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155974	NM_032194.3(RPF2):c.527G>A (p.Arg176His)	RPF2 (R176H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531869	NM_032194.3(RPF2):c.544T>G (p.Tyr182Asp)	RPF2 (Y119D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557390	NM_032194.3(RPF2):c.571G>A (p.Gly191Arg)	RPF2 (G128R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623547	NM_032194.3(RPF2):c.631C>T (p.Arg211Trp)	RPF2 (R148W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155975	NM_032194.3(RPF2):c.653G>A (p.Gly218Glu)	RPF2 (G155E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613707	NM_032194.3(RPF2):c.758A>G (p.Asn253Ser)	RPF2 (N190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556733	NM_032194.3(RPF2):c.760A>G (p.Ile254Val)	RPF2 (I254V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315147	NM_032194.3(RPF2):c.769G>T (p.Asp257Tyr)	RPF2 (D194Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155976	NM_032194.3(RPF2):c.860G>A (p.Arg287Gln)	RPF2 (R287Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155978	NM_032194.3(RPF2):c.878C>T (p.Thr293Ile)	RPF2 (T293I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155979	NM_032194.3(RPF2):c.889G>A (p.Glu297Lys)	RPF2 (E234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334951	NM_032194.3(RPF2):c.898T>G (p.Ser300Ala)	RPF2 (S237A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403164	NM_032194.3(RPF2):c.913A>G (p.Lys305Glu)	RPF2 (K242E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062935	GRCh37/hg19 6q21(chr6:110683352-111350364)x3	AMD1, CDK19 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 1808287	GRCh37/hg19 6q21(chr6:111198703-111878472)x3	AMD1, GTF3C6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 563218	GRCh37/hg19 6q21(chr6:110419878-111698827)x1	SLC22A16, REV3L +10 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 50