ClinVar for Gene (Select 54997) - ClinVar

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

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +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

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: 40