PPIL6[gene] - ClinVar

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Items: 54

	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 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 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 2385387	NM_173672.5(PPIL6):c.899T>C (p.Met300Thr)	PPIL6 (M326T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217231	NM_173672.5(PPIL6):c.835G>A (p.Glu279Lys)	PPIL6 (E279K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325037	NM_173672.5(PPIL6):c.833T>C (p.Ile278Thr)	PPIL6 (I246T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601741	NM_173672.5(PPIL6):c.760G>A (p.Gly254Arg)	PPIL6 (G222R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610419	NM_173672.5(PPIL6):c.748C>T (p.Arg250Cys)	PPIL6 (R250C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299785	NM_173672.5(PPIL6):c.740A>G (p.Asn247Ser)	PPIL6 (N215S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2282134	NM_173672.5(PPIL6):c.696C>A (p.Asn232Lys)	PPIL6 (N258K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217230	NM_173672.5(PPIL6):c.694A>G (p.Asn232Asp)	PPIL6 (N232D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623245	NM_173672.5(PPIL6):c.689-2876A>T	PPIL6 (I251F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217229	NM_173672.5(PPIL6):c.689-2888G>C	PPIL6 (G247R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411647	NM_173672.5(PPIL6):c.463A>G (p.Ile155Val)	PPIL6 (I155V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235743	NM_173672.5(PPIL6):c.451G>A (p.Asp151Asn)	PPIL6 (D119N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2254197	NM_173672.5(PPIL6):c.430G>T (p.Val144Leu)	PPIL6 (V144L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324092	NM_173672.5(PPIL6):c.364G>A (p.Ala122Thr)	PPIL6 (A90T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604080	NM_173672.5(PPIL6):c.263C>T (p.Ser88Phe)	PPIL6 (S88F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217227	NM_173672.5(PPIL6):c.199G>A (p.Ala67Thr)	PPIL6 (A67T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559704	NM_173672.5(PPIL6):c.146A>G (p.Asn49Ser)	PPIL6 (N49S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2378275	NM_173672.5(PPIL6):c.133G>A (p.Glu45Lys)	PPIL6 (E45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456233	NM_173672.5(PPIL6):c.95T>A (p.Phe32Tyr)	PPIL6 (F32Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458701	NM_173672.5(PPIL6):c.68C>T (p.Pro23Leu)	PPIL6 (P23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461851	NM_173672.5(PPIL6):c.50C>A (p.Pro17Gln)	PPIL6 (P17Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3217228	NM_173672.5(PPIL6):c.26C>A (p.Pro9His)	PPIL6 (P9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490893	NM_173672.5(PPIL6):c.26C>T (p.Pro9Leu)	PPIL6 (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217226	NM_173672.5(PPIL6):c.14A>G (p.Gln5Arg)	PPIL6 (Q5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347421	NM_173672.5(PPIL6):c.11C>T (p.Pro4Leu)	PPIL6 (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206526	NM_003080.3(SMPD2):c.23G>A (p.Arg8Gln)	PPIL6, SMPD2 (R8Q)	Single nucleotide variant (5 prime UTR variant +2 more)	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 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 2425986	NC_000006.11:g.(?_109690054)_(110266416_?)dup	AK9, CD164 +5 more	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1807797	GRCh37/hg19 6q21(chr6:109576603-109878834)x1	AK9, CD164 +4 more	Copy number loss	not provided	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 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 688296	GRCh37/hg19 6q21(chr6:109721133-110193742)x3	AK9, FIG4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686095	GRCh37/hg19 6q21(chr6:109726649-110071067)x3	AK9, FIG4 +4 more	Copy number gain	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
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	AFG1L, AK9 +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
Select item 394719	GRCh37/hg19 6q21(chr6:109714115-109797421)x1	MICAL1, PPIL6 +2 more	Copy number loss	See cases	GLikely benign

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Items: 54