YIPF3[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2270247	NM_015388.4(YIPF3):c.1027G>T (p.Val343Phe)	YIPF3 (V343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191511	NM_015388.4(YIPF3):c.1024G>A (p.Ala342Thr)	YIPF3 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466701	NM_015388.4(YIPF3):c.1012G>A (p.Ala338Thr)	YIPF3 (A338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556117	NM_015388.4(YIPF3):c.933C>A (p.Asn311Lys)	YIPF3 (N311K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224773	NM_015388.4(YIPF3):c.887A>G (p.Tyr296Cys)	YIPF3 (Y296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380139	NM_015388.4(YIPF3):c.805G>A (p.Val269Met)	YIPF3 (V269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236930	NM_015388.4(YIPF3):c.800G>A (p.Arg267Gln)	YIPF3 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343252	NM_015388.4(YIPF3):c.776G>A (p.Arg259His)	YIPF3 (R259H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557776	NM_015388.4(YIPF3):c.710A>G (p.Tyr237Cys)	YIPF3 (Y237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508174	NM_015388.4(YIPF3):c.640A>T (p.Thr214Ser)	YIPF3 (T214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520379	NM_015388.4(YIPF3):c.631G>A (p.Ala211Thr)	YIPF3 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191512	NM_015388.4(YIPF3):c.436C>T (p.Pro146Ser)	YIPF3 (P146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594264	NM_015388.4(YIPF3):c.409A>G (p.Met137Val)	YIPF3 (M137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589264	NM_015388.4(YIPF3):c.206C>T (p.Ala69Val)	YIPF3 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474741	NM_015388.4(YIPF3):c.199G>A (p.Ala67Thr)	YIPF3 (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335627	NM_015388.4(YIPF3):c.174C>T (p.Arg58=)	YIPF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656604	NM_015388.4(YIPF3):c.168C>T (p.Arg56=)	YIPF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264530	NM_015388.4(YIPF3):c.50C>A (p.Pro17Gln)	LOC129996517, YIPF3 (P17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511887	NM_015388.4(YIPF3):c.47G>T (p.Gly16Val)	LOC129996517, YIPF3 (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1216052	NM_015388.4(YIPF3):c.14C>T (p.Ala5Val)	POLR1C, YIPF3 +1 more (A5V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1216411	NM_015388.4(YIPF3):c.-49C>A	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1201016	NM_015388.4(YIPF3):c.-49C>T	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1217870	NM_015388.4(YIPF3):c.-71G>A	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1281294	NM_015388.4(YIPF3):c.-98C>T	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	KLHDC3, LRRC73 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 35