LOC129935619[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 334387	NM_025216.2(WNT10A):c.-203dup	LOC129935619, WNT10A	Duplication (genic upstream transcript variant)	SchC6pf-Schulz-Passarge syndrome +2 more	GLikely benign
Select item 334389	NM_025216.2(WNT10A):c.-194dup	LOC129935619, WNT10A	Duplication (genic upstream transcript variant)	SchC6pf-Schulz-Passarge syndrome +2 more	GUncertain significance
Select item 334388	NM_025216.2(WNT10A):c.-202G>C	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	SchC6pf-Schulz-Passarge syndrome +2 more	GUncertain significance
Select item 334390	NM_025216.2(WNT10A):c.-153G>A	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	SchC6pf-Schulz-Passarge syndrome +2 more	GUncertain significance
Select item 334391	NM_025216.2(WNT10A):c.-149G>T	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	SchC6pf-Schulz-Passarge syndrome +3 more	GUncertain significance
Select item 897794	NM_025216.3(WNT10A):c.-123C>A	LOC129935619, WNT10A	Single nucleotide variant (5 prime UTR variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance
Select item 898940	NM_025216.3(WNT10A):c.-70G>C	LOC129935619, WNT10A	Single nucleotide variant (5 prime UTR variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance