Related gene-specific medical variations for Gene (Select 341640) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279815	NM_207361.6(FREM2):c.8132T>C (p.Leu2711Ser)	FREM2, LOC130009588 (L2711S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2755331	NM_207361.6(FREM2):c.8106A>T (p.Leu2702=)	FREM2, LOC130009588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746241	NM_207361.6(FREM2):c.8106A>C (p.Leu2702=)	FREM2, LOC130009588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715005	NM_207361.6(FREM2):c.8118C>T (p.Tyr2706=)	FREM2, LOC130009588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689092	NM_207361.6(FREM2):c.7533C>T (p.Pro2511=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2627892	NM_207361.6(FREM2):c.7546dup (p.Val2516fs)	FREM2 (V2516fs)	Duplication (frameshift variant)	Fraser syndrome 2	GLikely pathogenic
Select item 2445969	NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)	FREM2, LOC130009588 (D2695*)	Duplication (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2441577	NM_207361.6(FREM2):c.5617G>A (p.Val1873Ile)	FREM2 (V1873I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296855	NM_207361.6(FREM2):c.8141A>G (p.Asp2714Gly)	FREM2, LOC130009588 (D2714G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281729	NM_207361.6(FREM2):c.8119G>A (p.Asp2707Asn)	FREM2, LOC130009588 (D2707N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942043	NM_207361.6(FREM2):c.8147T>C (p.Ile2716Thr)	FREM2, LOC130009588 (I2716T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801421	NM_207361.6(FREM2):c.6019+20342_6019+24474del	FREM2	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1425054	NM_207361.6(FREM2):c.8125G>A (p.Ala2709Thr)	FREM2, LOC130009588 (A2709T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344655	NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser)	FREM2 (P1221S)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GLikely pathogenic
Select item 1344610	NM_207361.6(FREM2):c.649C>T (p.Arg217Cys)	FREM2 (R217C)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1333452	NM_207361.6(FREM2):c.8144G>A (p.Gly2715Glu)	FREM2, LOC130009588 (G2715E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1322942	NM_207361.6(FREM2):c.3955dup (p.Thr1319fs)	FREM2 (T1319fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1322941	NM_207361.6(FREM2):c.4396C>T (p.Arg1466Ter)	FREM2 (R1466*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1252033	NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)	FREM2 (S768*)	Single nucleotide variant (nonsense)	Fraser syndrome 2	GLikely pathogenic
Select item 592035	NM_207361.6(FREM2):c.105_106delinsTT (p.Leu36Phe)	FREM2 (L36F)	Indel (missense variant)	not provided	GUncertain significance
Select item 591723	NM_207361.6(FREM2):c.8612T>C (p.Leu2871Pro)	FREM2 (L2871P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591388	NM_207361.6(FREM2):c.1541_1542delinsGT (p.Ala514Gly)	FREM2 (A514G)	Indel (missense variant)	not provided	GUncertain significance
Select item 591142	NM_207361.6(FREM2):c.1671T>G (p.Asp557Glu)	FREM2 (D557E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563996	GRCh37/hg19 13q13.3(chr13:39448121-39527619)x1	FREM2	Copy number loss	not provided	GUncertain significance
Select item 548551	NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr)	FREM2 (A1835T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 377116	NM_207361.6(FREM2):c.5810C>T (p.Ser1937Phe)	FREM2 (S1937F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 312023	NM_207361.6(FREM2):c.8061G>A (p.Gly2687=)	FREM2, LOC130009588	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 194804	NM_207361.6(FREM2):c.8100T>G (p.Leu2700=)	FREM2, LOC130009588	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 161860	NM_207361.6(FREM2):c.3497G>A (p.Arg1166His)	FREM2 (R1166H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 29