TAGAP[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 3173647	NM_054114.5(TAGAP):c.2056C>T (p.Pro686Ser)	TAGAP, TAGAP-AS1 (P686S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173646	NM_054114.5(TAGAP):c.1999T>A (p.Trp667Arg)	TAGAP, TAGAP-AS1 (W604R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173645	NM_054114.5(TAGAP):c.1906C>G (p.Pro636Ala)	TAGAP, TAGAP-AS1 (P458A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354463	NM_054114.5(TAGAP):c.1660G>A (p.Val554Met)	TAGAP, TAGAP-AS1 (V491M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244721	NM_054114.5(TAGAP):c.1634A>G (p.Lys545Arg)	TAGAP, TAGAP-AS1 (K482R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405822	NM_054114.5(TAGAP):c.1548C>G (p.His516Gln)	TAGAP, TAGAP-AS1 (H338Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173644	NM_054114.5(TAGAP):c.1463A>G (p.His488Arg)	TAGAP, TAGAP-AS1 (H425R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331081	NM_054114.5(TAGAP):c.1400C>A (p.Ala467Glu)	TAGAP, TAGAP-AS1 (A289E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173643	NM_054114.5(TAGAP):c.1378T>C (p.Phe460Leu)	TAGAP, TAGAP-AS1 (F397L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173642	NM_054114.5(TAGAP):c.1183C>G (p.Gln395Glu)	TAGAP, TAGAP-AS1 (Q332E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346365	NM_054114.5(TAGAP):c.1172G>A (p.Arg391Gln)	TAGAP, TAGAP-AS1 (R213Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727285	NM_054114.5(TAGAP):c.1039C>A (p.Pro347Thr)	TAGAP, TAGAP-AS1 (P284T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776179	NM_054114.5(TAGAP):c.1037G>A (p.Gly346Asp)	TAGAP, TAGAP-AS1 (G283D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735880	NM_054114.5(TAGAP):c.1031G>A (p.Ser344Asn)	TAGAP, TAGAP-AS1 (S344N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727286	NM_054114.5(TAGAP):c.850C>T (p.His284Tyr)	TAGAP, TAGAP-AS1 (H221Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495289	NM_054114.5(TAGAP):c.799G>A (p.Glu267Lys)	TAGAP, TAGAP-AS1 (E89K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283793	NM_054114.5(TAGAP):c.793C>G (p.Leu265Val)	TAGAP, TAGAP-AS1 (L202V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173649	NM_054114.5(TAGAP):c.744G>C (p.Gln248His)	LOC129997592, TAGAP +1 more (Q248H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410391	NM_054114.5(TAGAP):c.607C>T (p.Arg203Trp)	LOC129997593, TAGAP +1 more (R203W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173648	NM_054114.5(TAGAP):c.589G>A (p.Val197Ile)	TAGAP, TAGAP-AS1 (V134I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305413	NM_054114.5(TAGAP):c.556G>T (p.Asp186Tyr)	LOC126859853, TAGAP +1 more (D8Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519127	NM_054114.5(TAGAP):c.330T>G (p.Ile110Met)	LOC126859853, TAGAP +1 more (I110M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411568	NM_054114.5(TAGAP):c.328A>G (p.Ile110Val)	LOC126859853, TAGAP +1 more (I110V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521233	NM_054114.5(TAGAP):c.86A>G (p.Asp29Gly)	TAGAP (D29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1437902	NC_000006.11:g.(?_158532398)_(160114199_?)dup	DYNLT1, EZR +10 more	Duplication	Primary ciliary dyskinesia 32	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49