ClinVar for Gene (Select 126637) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325011	NM_001008536.2(TCHHL1):c.1942G>A (p.Glu648Lys)	TCHHL1 (E648K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325010	NM_001008536.2(TCHHL1):c.360G>C (p.Gln120His)	TCHHL1 (Q120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325009	NM_001008536.2(TCHHL1):c.1414A>G (p.Thr472Ala)	TCHHL1 (T472A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3325008	NM_001008536.2(TCHHL1):c.2409G>C (p.Gln803His)	TCHHL1 (Q803H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325007	NM_001008536.2(TCHHL1):c.385C>G (p.Gln129Glu)	TCHHL1 (Q129E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325006	NM_001008536.2(TCHHL1):c.1354G>A (p.Gly452Arg)	TCHHL1 (G452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325005	NM_001008536.2(TCHHL1):c.1481G>A (p.Gly494Glu)	TCHHL1 (G494E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325004	NM_001008536.2(TCHHL1):c.2221C>A (p.Pro741Thr)	TCHHL1 (P741T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3234166	NM_001008536.2(TCHHL1):c.606T>C (p.Asn202=)	TCHHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175279	NM_001008536.2(TCHHL1):c.965C>A (p.Thr322Asn)	TCHHL1 (T322N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175278	NM_001008536.2(TCHHL1):c.478T>A (p.Trp160Arg)	TCHHL1 (W160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175277	NM_001008536.2(TCHHL1):c.2700C>G (p.Ser900Arg)	TCHHL1 (S900R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175275	NM_001008536.2(TCHHL1):c.242T>C (p.Leu81Ser)	TCHHL1 (L81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175273	NM_001008536.2(TCHHL1):c.2014A>G (p.Ile672Val)	TCHHL1 (I672V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175272	NM_001008536.2(TCHHL1):c.2005G>C (p.Glu669Gln)	TCHHL1 (E669Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175271	NM_001008536.2(TCHHL1):c.1976C>A (p.Thr659Lys)	TCHHL1 (T659K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175270	NM_001008536.2(TCHHL1):c.1945C>T (p.Pro649Ser)	TCHHL1 (P649S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175269	NM_001008536.2(TCHHL1):c.1945C>G (p.Pro649Ala)	TCHHL1 (P649A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175268	NM_001008536.2(TCHHL1):c.1894G>C (p.Glu632Gln)	TCHHL1 (E632Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175267	NM_001008536.2(TCHHL1):c.1186G>T (p.Gly396Cys)	TCHHL1 (G396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2627993	NM_001008536.2(TCHHL1):c.1529T>C (p.Val510Ala)	TCHHL1 (V510A)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2621957	NM_001008536.2(TCHHL1):c.2655A>T (p.Gln885His)	TCHHL1 (Q885H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621094	NM_001008536.2(TCHHL1):c.64G>T (p.Asp22Tyr)	TCHHL1 (D22Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620666	NM_001008536.2(TCHHL1):c.713C>A (p.Pro238Gln)	TCHHL1 (P238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601774	NM_001008536.2(TCHHL1):c.2675G>A (p.Arg892Lys)	TCHHL1 (R892K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600069	NM_001008536.2(TCHHL1):c.1441G>T (p.Val481Leu)	TCHHL1 (V481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2567327	NM_001008536.2(TCHHL1):c.1205C>T (p.Thr402Ile)	TCHHL1 (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532674	NM_001008536.2(TCHHL1):c.1445A>G (p.Asn482Ser)	TCHHL1 (N482S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517354	NM_001008536.2(TCHHL1):c.2533G>C (p.Asp845His)	TCHHL1 (D845H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510792	NM_001008536.2(TCHHL1):c.1948A>G (p.Asn650Asp)	TCHHL1 (N650D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509699	NM_001008536.2(TCHHL1):c.2330G>A (p.Ser777Asn)	TCHHL1 (S777N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469277	NM_001008536.2(TCHHL1):c.118G>A (p.Glu40Lys)	TCHHL1 (E40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461140	NM_001008536.2(TCHHL1):c.1465G>A (p.Ala489Thr)	TCHHL1 (A489T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458639	NM_001008536.2(TCHHL1):c.2407C>A (p.Gln803Lys)	TCHHL1 (Q803K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425291	NC_000001.10:g.(?_151801885)_(152287932_?)dup	C2CD4D, FLG +9 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2394271	NM_001008536.2(TCHHL1):c.83T>C (p.Leu28Pro)	TCHHL1 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378970	NM_001008536.2(TCHHL1):c.1099T>C (p.Cys367Arg)	TCHHL1 (C367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360060	NM_001008536.2(TCHHL1):c.1760G>A (p.Gly587Asp)	TCHHL1 (G587D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326153	NM_001008536.2(TCHHL1):c.430C>T (p.Leu144Phe)	TCHHL1 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309383	NM_001008536.2(TCHHL1):c.220G>T (p.Val74Phe)	TCHHL1 (V74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309382	NM_001008536.2(TCHHL1):c.213T>G (p.Asp71Glu)	TCHHL1 (D71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305729	NM_001008536.2(TCHHL1):c.1387G>C (p.Ala463Pro)	TCHHL1 (A463P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301518	NM_001008536.2(TCHHL1):c.974A>G (p.Lys325Arg)	TCHHL1 (K325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298672	NM_001008536.2(TCHHL1):c.1868A>G (p.Glu623Gly)	TCHHL1 (E623G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290918	NM_001008536.2(TCHHL1):c.35T>C (p.Ile12Thr)	TCHHL1 (I12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286249	NM_001008536.2(TCHHL1):c.791C>T (p.Pro264Leu)	TCHHL1 (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282428	NM_001008536.2(TCHHL1):c.1634G>C (p.Gly545Ala)	TCHHL1 (G545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272141	NM_001008536.2(TCHHL1):c.517T>C (p.Ser173Pro)	TCHHL1 (S173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259409	NM_001008536.2(TCHHL1):c.2552A>G (p.Asn851Ser)	TCHHL1 (N851S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245363	NM_001008536.2(TCHHL1):c.2612G>A (p.Gly871Asp)	TCHHL1 (G871D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225263	NM_001008536.2(TCHHL1):c.2405A>G (p.Tyr802Cys)	TCHHL1 (Y802C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, LCE1D +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814127	GRCh37/hg19 1q21.3(chr1:152000477-152223996)x1	RPTN, TCHH +3 more	Copy number loss	not provided	GUncertain significance
Select item 814126	GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3	S100A11, FLG +9 more	Copy number gain	not provided	GUncertain significance
Select item 790490	NM_001008536.2(TCHHL1):c.880C>T (p.Gln294Ter)	TCHHL1 (Q294*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 790489	NM_001008536.2(TCHHL1):c.1595G>A (p.Gly532Glu)	TCHHL1 (G532E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786470	NM_001008536.2(TCHHL1):c.578C>G (p.Ala193Gly)	TCHHL1 (A193G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782799	NM_001008536.2(TCHHL1):c.499A>T (p.Asn167Tyr)	TCHHL1 (N167Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782798	NM_001008536.2(TCHHL1):c.2365T>C (p.Cys789Arg)	TCHHL1 (C789R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767701	NM_001008536.2(TCHHL1):c.2244T>C (p.Asp748=)	TCHHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 685455	GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3	FLG, HRNR +6 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 155694	GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1	CCDST, HRNR +23 more	Copy number loss	See cases	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 71