"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FAN1"[gene - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2645109	NC_000015.10:g.30801393T>C	FAN1	Single nucleotide variant	not provided	GBenign
Select item 1586655	NM_014967.5(FAN1):c.174G>A (p.Arg58=)	FAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 719369	NM_014967.5(FAN1):c.718G>A (p.Glu240Lys)	FAN1 (E240K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 807204	NM_014967.5(FAN1):c.1113dup (p.His372fs)	FAN1 (H372fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 711519	NM_014967.5(FAN1):c.1129C>T (p.Arg377Trp)	FAN1 (R377W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645110	NM_014967.5(FAN1):c.1227G>C (p.Gln409His)	FAN1 (Q409H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 619975	NM_014967.5(FAN1):c.1520G>A (p.Arg507His)	FAN1 (R507H)	Single nucleotide variant (missense variant)	Karyomegalic interstitial nephritis +1 more	GConflicting classifications of pathogenicity
Select item 715459	NM_014967.5(FAN1):c.1944-4T>C	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 717232	NM_014967.5(FAN1):c.2058C>T (p.Ala686=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723570	NM_014967.5(FAN1):c.2118A>C (p.Arg706=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	Karyomegalic interstitial nephritis +1 more	GLikely benign
Select item 771908	NM_014967.5(FAN1):c.2418C>T (p.Asp806=)	FAN1, MTMR10	Single nucleotide variant (synonymous variant)	FAN1-related condition +1 more	GBenign/Likely benign
Select item 437429	NM_014967.5(FAN1):c.2616del (p.Asp873fs)	FAN1, MTMR10 (D873fs)	Deletion (frameshift variant)	Karyomegalic interstitial nephritis +1 more	GPathogenic
Select item 710049	NM_014967.5(FAN1):c.2917-7T>G	FAN1, MTMR10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2645111	NM_017762.3(MTMR10):c.2055G>T (p.Leu685=)	FAN1, MTMR10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3024590	GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1	MTMR10, ARHGAP11B +7 more	Copy number loss	not provided	GPathogenic
Select item 3024589	GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2672599	GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1	TJP1, ARHGAP11B +8 more	Copy number loss	not provided	GPathogenic
Select item 2582942	GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711395	GRCh37/hg19 15q13.2-13.3(chr15:30898046-32691186)x1	MTMR10, ARHGAP11B +7 more	Copy number loss	not provided	GPathogenic
Select item 1711394	GRCh37/hg19 15q13.2-13.3(chr15:30696635-32783786)x3	ARHGAP11B, CHRNA7 +8 more	Copy number gain	not provided	GPathogenic
Select item 1701266	GRCh37/hg19 15q13.2-13.3(chr15:30899058-32446187)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic

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Items: 21