Thymus thermarum - ClinVar - NCBI

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The following term was not found in ClinVar: thermarum.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 443666	GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3	ACP6, BCL9 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 29670	NM_004379.5(CREB1):c.305A>G (p.Asp102Gly)	CREB1 (D116G +2 more)	Single nucleotide variant (missense variant +1 more)	Variant of unknown significance	GUncertain significance
Select item 1065157	NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)	MAN2B2 (D38N)	Single nucleotide variant (missense variant)	MAN2B2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3968	NM_001371623.1(TCOF1):c.4368del (p.Glu1457fs)	TCOF1 (E1380fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 1708463	GRCh37/hg19 5p15.1(chr5:15086014-15868591)x3	FBXL7	Copy number gain	DiGeorge syndrome	GUncertain significance
Select item 2451	NM_000434.4(NEU1):c.87G>A (p.Trp29Ter)	NEU1 (W29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 974766	NM_005720.4(ARPC1B):c.624_625del (p.Cys209fs)	ARPC1B (C209fs)	Deletion (frameshift variant)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	GPathogenic
Select item 586980	NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer)	ERI1	Deletion (frameshift variant)	Abnormal finger morphology +3 more	GLikely pathogenic
Select item 812501	NM_177924.5(ASAH1):c.457+4A>G	ASAH1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 430808	NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	PUF60	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 153538	GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3	ADAMTS14, LINC02622 +26 more	Copy number gain	See cases	GUncertain significance
Select item 2378251	NM_001318241.2(TBATA):c.1048G>A (p.Ala350Thr)	TBATA (A349T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384967	NM_001318241.2(TBATA):c.964G>A (p.Glu322Lys)	TBATA (E321K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174351	NM_001318241.2(TBATA):c.963C>A (p.Ser321Arg)	TBATA (S319R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459759	NM_001318241.2(TBATA):c.962G>A (p.Ser321Asn)	TBATA (S321N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174349	NM_001318241.2(TBATA):c.911C>G (p.Pro304Arg)	TBATA (P302R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255112	NM_001318241.2(TBATA):c.755T>C (p.Leu252Pro)	TBATA (L251P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240879	NM_001318241.2(TBATA):c.725C>A (p.Thr242Lys)	TBATA (T240K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 691402	NM_001318241.2(TBATA):c.666T>C (p.Ala222=)	TBATA	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 3174348	NM_001318241.2(TBATA):c.664G>A (p.Ala222Thr)	TBATA (A221T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2239909	NM_001318241.2(TBATA):c.607C>T (p.Arg203Cys)	TBATA (R203C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486642	NM_001318241.2(TBATA):c.568G>T (p.Gly190Trp)	TBATA (G190W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324097	NM_001318241.2(TBATA):c.543G>C (p.Gln181His)	TBATA (Q181H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470983	NM_001318241.2(TBATA):c.535C>T (p.Arg179Trp)	TBATA (R178W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289424	NM_001318241.2(TBATA):c.493C>A (p.Leu165Met)	TBATA (L165M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347625	NM_001318241.2(TBATA):c.464G>A (p.Arg155Gln)	TBATA (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341104	NM_001318241.2(TBATA):c.463C>T (p.Arg155Trp)	TBATA (R155W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599951	NM_001318241.2(TBATA):c.422C>G (p.Ser141Cys)	TBATA (S141C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174346	NM_001318241.2(TBATA):c.326T>C (p.Leu109Ser)	TBATA (L109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589233	NM_001318241.2(TBATA):c.252C>A (p.His84Gln)	TBATA (H84Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524518	NM_001318241.2(TBATA):c.227C>T (p.Ser76Phe)	TBATA (S76F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473100	NM_001318241.2(TBATA):c.188C>G (p.Thr63Ser)	TBATA (T63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264647	NM_001318241.2(TBATA):c.181C>T (p.Pro61Ser)	TBATA (P61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375275	NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys)	TBATA (R53C)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 3174345	NM_001318241.2(TBATA):c.146T>C (p.Phe49Ser)	TBATA (F49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232402	NM_001318241.2(TBATA):c.140T>C (p.Val47Ala)	TBATA (V47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402183	NM_001318241.2(TBATA):c.137T>C (p.Ile46Thr)	TBATA (I46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640560	NM_001318241.2(TBATA):c.81C>T (p.Arg27=)	TBATA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2398695	NM_001318241.2(TBATA):c.80G>A (p.Arg27His)	TBATA (R27H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 495806	NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)	PTEN (F341V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 36710	NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	RAG1 (W522C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 279852	NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)	MEN1 (R481fs +3 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 428064	NM_001370259.2(MEN1):c.1529_1530del (p.Ala510fs)	MEN1 (A552fs +3 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 16692	NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)	MEN1 (R460* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 428045	NM_001370259.2(MEN1):c.825-1G>A	MEN1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 653034	NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)	MEN1 (W230* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1452903	NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)	MEN1 (W270* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 127343	NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	ATM (P604S)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 100626	NM_000073.3(CD3G):c.205A>T (p.Lys69Ter)	CD3G, LOC126861358 (K69*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to CD3gamma deficiency	GPathogenic
Select item 14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A (G292fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 40886	NM_007074.4(CORO1A):c.248_249del (p.Pro83fs)	CORO1A (P83fs)	Deletion (frameshift variant)	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 8757	NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter)	FOXN1 (R255*)	Single nucleotide variant (nonsense)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenic
Select item 827574	NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs)	FOXN1 (D313fs)	Duplication (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenic
Select item 827572	NM_001369369.1(FOXN1):c.958C>T (p.Arg320Trp)	FOXN1 (R320W)	Single nucleotide variant (missense variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GUncertain significance
Select item 827575	NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys)	FOXN1	Deletion (inframe_indel)	T-lymphocyte deficiency +1 more	GPathogenic
Select item 598960	NM_001369369.1(FOXN1):c.1247del (p.Pro416fs)	FOXN1 (P416fs)	Deletion (frameshift variant)	Relative macrocephaly +3 more	GLikely pathogenic
Select item 869415	NM_001369369.1(FOXN1):c.1465del (p.Gln489fs)	FOXN1 (Q489fs)	Deletion (frameshift variant)	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 522826	NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	TBX2 (R20Q)	Single nucleotide variant (missense variant)	TBX2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3062231	NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)	JAG1 (W404*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1171018	NM_001257096.2(PAX1):c.439G>C (p.Val147Leu)	PAX1 (V147L)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 2	GPathogenic
Select item 1171017	NM_001257096.2(PAX1):c.463_465del (p.Asn155del)	PAX1 (N155del)	Deletion (inframe_deletion)	Otofaciocervical syndrome 2	GPathogenic
Select item 800553	NM_001257096.2(PAX1):c.1104C>A (p.Cys368Ter)	PAX1 (C368*)	Single nucleotide variant (nonsense)	Otofaciocervical syndrome 2	GPathogenic
Select item 155158	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 144408	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 33422	GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1	ARVCF, C22orf39 +119 more	Copy number loss	See cases	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 584158	NC_000022.11:g.(?_19722428)_(19975757_?)del	GNB1L, ARVCF +19 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 1168328	NC_000022.11:g.19755901C>T	TBX1	Single nucleotide variant	DiGeorge syndrome	GBenign
Select item 660156	NC_000022.11:g.(?_19755901)_(19766877_?)del	LOC110120888, TBX1	Deletion	DiGeorge syndrome	GPathogenic
Select item 583599	NC_000022.11:g.(?_19755901)_(19783042_?)del	LOC110120888, TBX1	Deletion	DiGeorge syndrome	GPathogenic
Select item 640457	NC_000022.11:g.(?_19755950)_(19759697_?)del	TBX1	Deletion	DiGeorge syndrome	GPathogenic
Select item 455793	NM_080647.1(TBX1):c.-882C>T	TBX1	Single nucleotide variant	DiGeorge syndrome	GBenign
Select item 379734	NM_080647.1(TBX1):c.-39C>T	TBX1	Single nucleotide variant (5 prime UTR variant)	DiGeorge syndrome +2 more	GBenign/Likely benign
Select item 2028913	NM_080647.1(TBX1):c.-4_6del (p.Met1fs)	TBX1 (M1fs)	Deletion (frameshift variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 706401	NM_080647.1(TBX1):c.15C>T (p.Thr5=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 500791	NM_080647.1(TBX1):c.15C>A (p.Thr5=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1020038	NM_080647.1(TBX1):c.28A>G (p.Met10Val)	TBX1 (M10V)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2914171	NM_080647.1(TBX1):c.34+2T>A	TBX1	Single nucleotide variant (splice donor variant)	DiGeorge syndrome	GLikely pathogenic
Select item 1018677	NM_080647.1(TBX1):c.34+6C>T	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 2914971	NM_080647.1(TBX1):c.34+12G>A	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2727544	NM_080647.1(TBX1):c.34+17T>A	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2794447	NM_080647.1(TBX1):c.34+18G>C	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 1944327	NM_001379200.1(TBX1):c.42G>T (p.Ser14=)	TBX1	Single nucleotide variant (intron variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2884595	NM_001379200.1(TBX1):c.45T>C (p.His15=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2163092	NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)	TBX1 (C17R)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 1657570	NM_001379200.1(TBX1):c.51C>T (p.Cys17=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign

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