PREP[gene] - ClinVar

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Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +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 2597950	NM_002726.5(PREP):c.2119G>A (p.Asp707Asn)	PREP (D707N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286757	NM_002726.5(PREP):c.2104C>T (p.Arg702Trp)	PREP (R702W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784094	NM_002726.5(PREP):c.2040C>T (p.His680=)	PREP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3309866	NM_002726.5(PREP):c.2033C>T (p.Ala678Val)	PREP (A678V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218538	NM_002726.5(PREP):c.1988G>A (p.Ser663Asn)	PREP (S663N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218537	NM_002726.5(PREP):c.1984C>T (p.Arg662Cys)	PREP (R662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218536	NM_002726.5(PREP):c.1613T>C (p.Ile538Thr)	PREP (I538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291077	NM_002726.5(PREP):c.1510A>G (p.Ile504Val)	PREP (I504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314309	NM_002726.5(PREP):c.1394C>G (p.Ser465Cys)	PREP (S465C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454736	NM_002726.5(PREP):c.1354A>G (p.Met452Val)	PREP (M452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309868	NM_002726.5(PREP):c.1244A>G (p.Glu415Gly)	PREP (E415G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309867	NM_002726.5(PREP):c.1192T>G (p.Phe398Val)	PREP (F398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218534	NM_002726.5(PREP):c.1138G>A (p.Gly380Ser)	PREP (G380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309865	NM_002726.5(PREP):c.1127C>T (p.Pro376Leu)	PREP (P376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562240	NM_002726.5(PREP):c.1121C>G (p.Thr374Ser)	PREP (T374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254991	NM_002726.5(PREP):c.1119G>C (p.Lys373Asn)	PREP (K373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218533	NM_002726.5(PREP):c.1108G>A (p.Ala370Thr)	PREP (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296913	NM_002726.5(PREP):c.1051T>A (p.Leu351Ile)	PREP (L351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311335	NM_002726.5(PREP):c.1034G>A (p.Arg345Lys)	PREP (R345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238425	NM_002726.5(PREP):c.998A>G (p.His333Arg)	PREP (H333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364791	NM_002726.5(PREP):c.937G>A (p.Val313Met)	PREP (V313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309864	NM_002726.5(PREP):c.935G>A (p.Arg312His)	PREP (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342468	NM_002726.5(PREP):c.929A>G (p.Asn310Ser)	PREP (N310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218545	NM_002726.5(PREP):c.917G>T (p.Arg306Leu)	PREP (R306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307185	NM_002726.5(PREP):c.916C>T (p.Arg306Cys)	PREP (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218543	NM_002726.5(PREP):c.893C>T (p.Thr298Met)	PREP (T298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409339	NM_002726.5(PREP):c.685C>A (p.Pro229Thr)	PREP (P229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272332	NM_002726.5(PREP):c.650C>T (p.Thr217Ile)	PREP (T217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411237	NM_002726.5(PREP):c.557T>A (p.Phe186Tyr)	PREP (F186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380246	NM_002726.5(PREP):c.328G>T (p.Ala110Ser)	PREP (A110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545636	NM_002726.5(PREP):c.253C>T (p.Arg85Trp)	PREP (R85W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204233	NM_002726.5(PREP):c.235C>T (p.His79Tyr)	PREP (H79Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218539	NM_002726.5(PREP):c.215A>G (p.Asp72Gly)	PREP (D72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367285	NM_002726.5(PREP):c.103G>A (p.Asp35Asn)	PREP (D35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309863	NM_002726.5(PREP):c.43G>A (p.Ala15Thr)	LOC129996890, PREP (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318072	NM_002726.5(PREP):c.41C>T (p.Thr14Ile)	LOC129996890, PREP (T14I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218542	NM_002726.5(PREP):c.39G>T (p.Glu13Asp)	LOC129996890, PREP (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218541	NM_002726.5(PREP):c.25G>A (p.Val9Met)	LOC129996890, PREP (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478086	NM_002726.5(PREP):c.24C>G (p.Asp8Glu)	LOC129996890, PREP (D8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298764	NM_002726.5(PREP):c.10C>T (p.Leu4Phe)	LOC129996890, PREP (L4F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807989	GRCh37/hg19 6q21(chr6:105551316-105870467)x3	BVES, POPDC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1527272	GRCh37/hg19 6q21(chr6:105550491-107378236)	ATG5, BVES +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +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 816616	GRCh37/hg19 6q21(chr6:105585683-106158458)x3	PREP, POPDC3	Copy number gain	not provided	GLikely benign
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 59