TAGAP[gene] - ClinVar

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Items: 52

	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	LOC129389719, LOC129389720 +866 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	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 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 3324316	NM_054114.5(TAGAP):c.2002A>C (p.Lys668Gln)	TAGAP, TAGAP-AS1 (K668Q +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 3324313	NM_054114.5(TAGAP):c.1424C>T (p.Ala475Val)	TAGAP, TAGAP-AS1 (A297V +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 3324314	NM_054114.5(TAGAP):c.728C>T (p.Thr243Ile)	LOC129997592, TAGAP +1 more (T180I +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	EZR, FNDC1 +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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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

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Items: 52