ClinVar for Gene (Select 2237) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ACTN3, ACY3 +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	GRIA4, GRIK4 +956 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	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 25