ClinVar for Gene (Select 83874) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174396	NM_031937.3(TBC1D10A):c.685G>A (p.Gly229Ser)	TBC1D10A (G236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174395	NM_031937.3(TBC1D10A):c.579G>C (p.Glu193Asp)	TBC1D10A (E200D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174394	NM_031937.3(TBC1D10A):c.542G>A (p.Arg181His)	TBC1D10A (R181H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174392	NM_031937.3(TBC1D10A):c.478C>T (p.Arg160Trp)	TBC1D10A (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174391	NM_031937.3(TBC1D10A):c.331G>A (p.Gly111Ser)	TBC1D10A (G111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174390	NM_031937.3(TBC1D10A):c.330G>T (p.Lys110Asn)	TBC1D10A (K110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174389	NM_031937.3(TBC1D10A):c.314G>A (p.Arg105His)	TBC1D10A (R112H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174388	NM_031937.3(TBC1D10A):c.264C>A (p.Asp88Glu)	TBC1D10A (D88E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174387	NM_031937.3(TBC1D10A):c.1496C>T (p.Thr499Met)	TBC1D10A (T499M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174385	NM_031937.3(TBC1D10A):c.1144C>T (p.Arg382Cys)	TBC1D10A (R389C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174384	NM_031937.3(TBC1D10A):c.1129G>A (p.Gly377Ser)	TBC1D10A (G377S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174383	NM_031937.3(TBC1D10A):c.1108C>T (p.Arg370Trp)	TBC1D10A (R370W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174381	NM_031937.3(TBC1D10A):c.993C>G (p.Ile331Met)	TBC1D10A (I338M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621910	NM_031937.3(TBC1D10A):c.296A>G (p.Lys99Arg)	TBC1D10A (K99R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595030	NM_031937.3(TBC1D10A):c.574G>A (p.Glu192Lys)	TBC1D10A (E192K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557348	NM_031937.3(TBC1D10A):c.991A>G (p.Ile331Val)	TBC1D10A (I331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544267	NM_031937.3(TBC1D10A):c.1151C>T (p.Pro384Leu)	TBC1D10A (P384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532514	NM_031937.3(TBC1D10A):c.59C>G (p.Ser20Trp)	TBC1D10A (S20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489512	NM_031937.3(TBC1D10A):c.259C>G (p.Leu87Val)	TBC1D10A (L87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488074	NM_031937.3(TBC1D10A):c.1076G>A (p.Arg359His)	TBC1D10A (R366H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474953	NM_031937.3(TBC1D10A):c.1048G>A (p.Glu350Lys)	TBC1D10A (E350K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472289	NM_031937.3(TBC1D10A):c.356G>A (p.Arg119His)	TBC1D10A (R119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465380	NM_031937.3(TBC1D10A):c.1336G>A (p.Glu446Lys)	TBC1D10A (E453K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461818	NM_031937.3(TBC1D10A):c.100A>G (p.Thr34Ala)	TBC1D10A (T34A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460847	NM_031937.3(TBC1D10A):c.812T>C (p.Met271Thr)	TBC1D10A (M271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364777	NM_031937.3(TBC1D10A):c.1506G>C (p.Glu502Asp)	TBC1D10A (E502D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353736	NM_031937.3(TBC1D10A):c.624G>A (p.Met208Ile)	TBC1D10A (M208I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342596	NM_031937.3(TBC1D10A):c.950C>T (p.Ser317Phe)	TBC1D10A (S317F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341427	NM_031937.3(TBC1D10A):c.1396C>A (p.Pro466Thr)	TBC1D10A (P466T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332960	NM_031937.3(TBC1D10A):c.931C>G (p.Leu311Val)	TBC1D10A (L318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332959	NM_031937.3(TBC1D10A):c.995A>T (p.Glu332Val)	TBC1D10A (E332V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279184	NM_031937.3(TBC1D10A):c.934A>C (p.Lys312Gln)	TBC1D10A (K312Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242173	NM_031937.3(TBC1D10A):c.985G>A (p.Glu329Lys)	TBC1D10A (E329K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223639	NM_031937.3(TBC1D10A):c.1268C>T (p.Ala423Val)	TBC1D10A (A423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 1226011	NM_031937.3(TBC1D10A):c.1232G>A (p.Arg411His)	TBC1D10A (R411H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58