LOC129935269[gene] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3100346	NM_014905.5(GLS):c.148G>A (p.Ala50Thr)	GLS, LOC129935269 (A50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356559	NM_014905.5(GLS):c.149C>A (p.Ala50Asp)	GLS, LOC129935269 (A50D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358293	NM_014905.5(GLS):c.153C>T (p.Ala51=)	GLS, LOC129935269	Single nucleotide variant (synonymous variant)	GLS-related disorder	GLikely benign
Select item 2664197	NM_014905.5(GLS):c.189G>T (p.Trp63Cys)	GLS, LOC129935269 (W63C)	Single nucleotide variant (missense variant)	Global developmental delay, progressive ataxia, and elevated glutamine	GUncertain significance
Select item 2403084	NM_014905.5(GLS):c.194C>T (p.Ala65Val)	GLS, LOC129935269 (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance