30009[geneid] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 5321	NC_000017.11:g.47731462T>C	LOC109286563, TBX21	Single nucleotide variant	Asthma, aspirin-induced, susceptibility to +1 more	GPathogenic; risk factor
Select item 626179	NM_013351.2(TBX21):c.83G>A (p.Gly28Asp)	LOC109286563, TBX21 (G28D)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 2343716	NM_013351.2(TBX21):c.90C>A (p.Asp30Glu)	LOC109286563, TBX21 (D30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688320	NM_013351.2(TBX21):c.99C>G (p.His33Gln)	LOC109286563, TBX21 (H33Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3174955	NM_013351.2(TBX21):c.112C>T (p.Pro38Ser)	LOC109286563, TBX21 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500097	NM_013351.2(TBX21):c.113C>A (p.Pro38Gln)	LOC109286563, TBX21 (P38Q)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 2394542	NM_013351.2(TBX21):c.134C>A (p.Ala45Glu)	LOC109286563, TBX21 (A45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387223	NM_013351.2(TBX21):c.175C>T (p.Pro59Ser)	LOC130061064, TBX21 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391527	NM_013351.2(TBX21):c.190G>A (p.Val64Met)	LOC130061064, TBX21 (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316976	NM_013351.2(TBX21):c.218G>C (p.Gly73Ala)	LOC130061064, TBX21 (G73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363929	NM_013351.2(TBX21):c.241C>T (p.Pro81Ser)	LOC130061064, TBX21 (P81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471365	NM_013351.2(TBX21):c.251C>T (p.Ala84Val)	LOC130061064, TBX21 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174958	NM_013351.2(TBX21):c.292G>T (p.Asp98Tyr)	LOC130061064, TBX21 (D98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321273	NM_013351.2(TBX21):c.302G>T (p.Gly101Val)	LOC130061064, TBX21 (G101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174959	NM_013351.2(TBX21):c.311C>T (p.Pro104Leu)	LOC130061064, TBX21 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 828012	NM_013351.2(TBX21):c.326C>G (p.Ala109Gly)	LOC130061064, TBX21 (A109G)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 2326038	NM_013351.2(TBX21):c.332C>T (p.Pro111Leu)	LOC130061064, TBX21 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254383	NM_013351.2(TBX21):c.358G>A (p.Gly120Arg)	TBX21 (G120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334938	NM_013351.2(TBX21):c.390A>G (p.Gly130=)	TBX21	Single nucleotide variant (synonymous variant)	Immunodeficiency 88 +1 more	GBenign
Select item 3043042	NM_013351.2(TBX21):c.408A>G (p.Lys136=)	TBX21	Single nucleotide variant (synonymous variant)	TBX21-related disorder	GLikely benign
Select item 2557153	NM_013351.2(TBX21):c.432C>A (p.His144Gln)	TBX21 (H144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326844	NM_013351.2(TBX21):c.466_471delinsAGTTTA (p.Glu156_Met157delinsSerLeu)	TBX21	Indel (missense variant)	Immunodeficiency 88	GPathogenic
Select item 2548383	NM_013351.2(TBX21):c.613G>A (p.Val205Met)	TBX21 (V205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733866	NM_013351.2(TBX21):c.750G>A (p.Ala250=)	TBX21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781304	NM_013351.2(TBX21):c.769-3C>T	TBX21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2249420	NM_013351.2(TBX21):c.788T>A (p.Leu263His)	TBX21 (L263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373668	NM_013351.2(TBX21):c.818T>C (p.Val273Ala)	TBX21 (V273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385891	NM_013351.2(TBX21):c.848C>A (p.Ala283Asp)	TBX21 (A283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040058	NM_013351.2(TBX21):c.903C>T (p.Ala301=)	TBX21	Single nucleotide variant (synonymous variant)	TBX21-related disorder	GLikely benign
Select item 3050348	NM_013351.2(TBX21):c.928-6C>G	TBX21	Single nucleotide variant (intron variant)	TBX21-related disorder	GLikely benign
Select item 3174954	NM_013351.2(TBX21):c.1055G>A (p.Gly352Glu)	TBX21 (G352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230658	NM_013351.2(TBX21):c.1063T>C (p.Tyr355His)	TBX21 (Y355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992544	NM_013351.2(TBX21):c.1066T>C (p.Ser356Pro)	TBX21 (S356P)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 2327956	NM_013351.2(TBX21):c.1070C>A (p.Pro357His)	TBX21 (P357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515783	NM_013351.2(TBX21):c.1103G>A (p.Arg368His)	TBX21 (R368H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992545	NM_013351.2(TBX21):c.1157G>T (p.Trp386Leu)	TBX21 (W386L)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 3174956	NM_013351.2(TBX21):c.1171C>T (p.Arg391Trp)	TBX21 (R391W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216390	NM_013351.2(TBX21):c.1211T>C (p.Met404Thr)	TBX21 (M404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174957	NM_013351.2(TBX21):c.1249A>G (p.Met417Val)	TBX21 (M417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626180	NM_013351.2(TBX21):c.1272G>T (p.Glu424Asp)	TBX21 (E424D)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 2402154	NM_013351.2(TBX21):c.1348C>G (p.Pro450Ala)	TBX21 (P450A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481916	NM_013351.2(TBX21):c.1420C>G (p.Pro474Ala)	TBX21 (P474A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353600	NM_013351.2(TBX21):c.1439T>C (p.Ile480Thr)	TBX21 (I480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785822	NM_013351.2(TBX21):c.1509C>T (p.Ser503=)	TBX21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52