ClinVar for Gene (Select 54997) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325479	NM_017899.4(TESC):c.256G>C (p.Glu86Gln)	TESC (E59Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176167	NM_017899.4(TESC):c.65C>T (p.Ser22Leu)	TESC (S22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 2597892	NM_017899.4(TESC):c.376A>G (p.Ser126Gly)	TESC (S99G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559893	NM_017899.4(TESC):c.249C>G (p.Ile83Met)	TESC (I56M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511034	NM_017899.4(TESC):c.385C>T (p.Arg129Cys)	TESC (R129C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496429	NM_017899.4(TESC):c.281A>T (p.Tyr94Phe)	TESC (Y67F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392016	NM_017899.4(TESC):c.76G>A (p.Glu26Lys)	TESC (E26K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366107	NM_017899.4(TESC):c.243T>G (p.Asp81Glu)	TESC (D54E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325350	NM_017899.4(TESC):c.17C>T (p.Ser6Phe)	TESC (S6F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325349	NM_017899.4(TESC):c.16T>C (p.Ser6Pro)	TESC (S6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308039	NM_017899.4(TESC):c.161A>T (p.Glu54Val)	TESC (E54V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240008	NM_017899.4(TESC):c.392C>T (p.Thr131Ile)	TESC (T104I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808305	GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980457	GRCh37/hg19 12q24.22(chr12:117327155-117693543)x3	FBXO21, NOS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815560	GRCh37/hg19 12q24.22(chr12:117147027-117705774)x4	FBXO21, SPRING1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815556	GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3	MAP1LC3B2, TESC +7 more	Copy number gain	not provided	GUncertain significance
Select item 791322	NM_017899.4(TESC):c.350-9C>A	TESC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787934	NM_017899.4(TESC):c.447C>T (p.Ile149=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768589	NM_017899.4(TESC):c.502G>A (p.Val168Met)	TESC (V141M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 756914	NM_017899.4(TESC):c.432G>A (p.Ser144=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745672	NM_017899.4(TESC):c.249C>A (p.Ile83=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742597	NM_017899.4(TESC):c.495G>A (p.Ala165=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735733	NM_017899.4(TESC):c.195C>T (p.Ala65=)	TESC	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 731885	NM_017899.4(TESC):c.381C>T (p.Asp127=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731115	NM_017899.4(TESC):c.603C>T (p.His201=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720006	NM_017899.4(TESC):c.609C>T (p.Arg203=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715914	NM_017899.4(TESC):c.297C>T (p.Asp99=)	TESC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563968	GRCh37/hg19 12q24.22-24.23(chr12:117104335-118209153)x1	NOS1, TESC +6 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441656	GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3	FBXO21, FBXW8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 41