XAF1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 3190943	NM_017523.5(XAF1):c.8G>C (p.Gly3Ala)	LOC130060095, XAF1 (G3A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2242119	NM_017523.5(XAF1):c.11A>C (p.Asp4Ala)	LOC130060095, XAF1 (D4A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2333562	NM_017523.5(XAF1):c.62C>G (p.Thr21Ser)	XAF1 (T21S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2508313	NM_017523.5(XAF1):c.86G>A (p.Arg29Gln)	XAF1 (R29Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2479566	NM_017523.5(XAF1):c.136A>G (p.Met46Val)	XAF1 (M46V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2339122	NM_017523.5(XAF1):c.165G>C (p.Gln55His)	XAF1 (Q55H +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2598017	NM_017523.5(XAF1):c.195C>G (p.Ser65Arg)	XAF1 (S65R +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1243178	NM_017523.5(XAF1):c.254A>G (p.Glu85Gly)	XAF1 (E25G +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2269685	NM_017523.5(XAF1):c.263T>C (p.Phe88Ser)	XAF1 (F28S +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2383791	NM_017523.5(XAF1):c.304G>A (p.Glu102Lys)	XAF1 (E42K +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3190942	NM_017523.5(XAF1):c.359T>C (p.Met120Thr)	XAF1 (M120T +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2333937	NM_017523.5(XAF1):c.361C>T (p.His121Tyr)	XAF1 (H61Y +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2405695	NM_017523.5(XAF1):c.364C>T (p.Arg122Cys)	XAF1 (R103C +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2391997	NM_017523.5(XAF1):c.388G>A (p.Val130Ile)	XAF1 (M107I +4 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2323521	NM_017523.5(XAF1):c.544T>G (p.Phe182Val)	XAF1 (F163V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303725	NM_017523.5(XAF1):c.564A>T (p.Glu188Asp)	XAF1 (E169D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403424	NM_017523.5(XAF1):c.632G>A (p.Arg211His)	XAF1 (R141H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401867	NM_017523.5(XAF1):c.698G>A (p.Arg233Lys)	XAF1 (R136K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485384	NM_017523.5(XAF1):c.817C>A (p.Leu273Met)	XAF1 (L144M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297864	NM_017523.5(XAF1):c.859C>T (p.Arg287Trp)	XAF1 (R217W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1526565	GRCh37/hg19 17p13.1(chr17:6630435-6778040)	FBXO39, TEKT1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1340661	GRCh37/hg19 17p13.1(chr17:6630436-6811274)x1	FBXO39, TEKT1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815899	GRCh37/hg19 17p13.1(chr17:6630435-6800894)x1	TEKT1, FBXO39 +1 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442539	GRCh37/hg19 17p13.1(chr17:6564810-6660724)x0	SLC13A5, XAF1	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 45