ClinVar for Gene (Select 112806077) - ClinVar - NCBI

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

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693165	NC_000002.12:g.216370024_216479573inv	LOC112806077, LOC129935569 +2 more	Inversion	Schimke immuno-osseous dysplasia	GLikely pathogenic
Select item 898338	NM_014140.3(SMARCAL1):c.-316T>C	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 895359	NM_014140.3(SMARCAL1):c.-262C>G	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 895358	NM_014140.3(SMARCAL1):c.-300G>C	LOC112806077, SMARCAL1	Single nucleotide variant	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334283	NM_014140.4(SMARCAL1):c.-164G>A	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334282	NM_014140.4(SMARCAL1):c.-170C>T	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334281	NM_014140.4(SMARCAL1):c.-200G>A	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334280	NM_014140.4(SMARCAL1):c.-218C>T	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GBenign
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153437	GRCh38/hg38 2q35(chr2:216266846-216782346)x3	IGFBP-AS1, IGFBP2 +16 more	Copy number gain	See cases	Gconflicting data from submitters
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 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic