LOC130061064[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +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 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 3324867	NM_013351.2(TBX21):c.242C>T (p.Pro81Leu)	LOC130061064, TBX21 (P81L)	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