ClinVar for Gene (Select 2237) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278478	NM_004111.6(FEN1):c.856C>G (p.Pro286Ala)	FEN1 (P286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278477	NM_004111.6(FEN1):c.673G>T (p.Asp225Tyr)	FEN1 (D225Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094380	NM_004111.6(FEN1):c.995G>A (p.Arg332His)	FEN1 (R332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094379	NM_004111.6(FEN1):c.716G>A (p.Arg239Gln)	FEN1 (R239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094378	NM_004111.6(FEN1):c.386G>A (p.Arg129Gln)	FEN1 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094377	NM_004111.6(FEN1):c.1042G>A (p.Gly348Ser)	FEN1 (G348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2689063	NM_004111.6(FEN1):c.569T>C (p.Leu190Pro)	FEN1 (L190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2537882	NM_004111.6(FEN1):c.896G>A (p.Ser299Asn)	FEN1 (S299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534119	NM_004111.6(FEN1):c.1102G>A (p.Ala368Thr)	FEN1 (A368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526221	NM_004111.6(FEN1):c.293C>T (p.Ala98Val)	FEN1 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486202	NM_004111.6(FEN1):c.232G>A (p.Gly78Ser)	FEN1 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2375073	NM_004111.6(FEN1):c.140G>A (p.Arg47His)	FEN1 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368474	NM_004111.6(FEN1):c.964C>T (p.Arg322Cys)	FEN1 (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311471	NM_004111.6(FEN1):c.947T>A (p.Phe316Tyr)	FEN1 (F316Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1252029	NM_004111.6(FEN1):c.704G>A (p.Cys235Tyr)	FEN1 (C235Y)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 981884	NM_004111.6(FEN1):c.311G>A (p.Arg104Gln)	FEN1 (R104Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 27