LOC129931512[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1630980	NM_001111.5(ADAR):c.15+20G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1672690	NM_001111.5(ADAR):c.15+16C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2938637	NM_001111.5(ADAR):c.15+15C>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2019447	NM_001111.5(ADAR):c.15+15C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 1649475	NM_001111.5(ADAR):c.15+13G>C	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1663240	NM_001111.5(ADAR):c.15+10G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 193166	NM_001111.5(ADAR):c.15+10G>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +3 more	GBenign
Select item 1572159	NM_001111.5(ADAR):c.15+9G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2040804	NM_001111.5(ADAR):c.15+8G>A	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2933073	NM_001111.5(ADAR):c.15+7C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2120702	NM_001111.5(ADAR):c.15+6C>G	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1014328	NM_001111.5(ADAR):c.15+6C>T	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1470314	NM_001111.5(ADAR):c.15+4A>G	ADAR, LOC129931512	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2926991	NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)	ADAR, LOC129931512 (Q5R)	Single nucleotide variant (missense variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2925400	NM_001111.5(ADAR):c.12G>T (p.Arg4=)	ADAR, LOC129931512	Single nucleotide variant (synonymous variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2937747	NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)	ADAR, LOC129931512 (R4P)	Single nucleotide variant (missense variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 773816	NM_001111.5(ADAR):c.9G>A (p.Pro3=)	ADAR, LOC129931512	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1369200	NM_001111.5(ADAR):c.7C>G (p.Pro3Ala)	ADAR, LOC129931512 (P3A)	Single nucleotide variant (missense variant +2 more)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1018708	NM_001111.5(ADAR):c.7C>T (p.Pro3Ser)	ADAR, LOC129931512 (P3S)	Single nucleotide variant (missense variant +2 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 931633	NM_001111.5(ADAR):c.1A>G (p.Met1Val)	ADAR, LOC129931512 (M1V)	Single nucleotide variant (missense variant +3 more)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 292787	NM_001111.5(ADAR):c.-48A>G	ADAR, LOC129931512	Single nucleotide variant (intron variant +1 more)	Symmetrical dyschromatosis of extremities	GBenign

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Items: 24