ClinVar for Gene (Select 126807615) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3105852	NM_138820.4(HIGD2A):c.98A>C (p.Glu33Ala)	ARL10, HIGD2A +1 more (E33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105851	NM_138820.4(HIGD2A):c.25C>A (p.Pro9Thr)	ARL10, HIGD2A +1 more (P9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105850	NM_138820.4(HIGD2A):c.133G>C (p.Glu45Gln)	ARL10, HIGD2A +1 more (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596141	NM_138820.4(HIGD2A):c.131G>A (p.Arg44His)	ARL10, HIGD2A +1 more (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594792	NM_016391.8(NOP16):c.206G>T (p.Arg69Leu)	ARL10, LOC126807615 +1 more (R69L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490073	NM_138820.4(HIGD2A):c.90G>C (p.Arg30Ser)	ARL10, HIGD2A +1 more (R30S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386489	NM_138820.4(HIGD2A):c.74G>A (p.Ser25Asn)	ARL10, HIGD2A +1 more (S25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256715	NM_016391.8(NOP16):c.148C>T (p.Arg50Trp)	ARL10, LOC126807615 +1 more (R45W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204329	NM_138820.4(HIGD2A):c.140C>T (p.Pro47Leu)	ARL10, HIGD2A +1 more (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	LOC129995362, LOC129995363 +142 more	Copy number loss	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	LOC129995388, LOC129995389 +145 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 27