ClinVar for Gene (Select 84321) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177090	NM_032361.4(THOC3):c.512A>G (p.Lys171Arg)	THOC3 (K171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177089	NM_032361.4(THOC3):c.164G>A (p.Ser55Asn)	THOC3 (S55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177088	NM_032361.4(THOC3):c.118G>A (p.Glu40Lys)	THOC3 (E40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177087	NM_032361.4(THOC3):c.10C>T (p.Pro4Ser)	THOC3 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685187	GRCh37/hg19 5q35.2(chr5:175343531-175460074)x1	THOC3	Copy number loss	not provided	GUncertain significance
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2487184	NM_032361.4(THOC3):c.458G>A (p.Gly153Glu)	THOC3 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483812	NM_032361.4(THOC3):c.92C>T (p.Pro31Leu)	THOC3 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2378490	NM_032361.4(THOC3):c.41G>A (p.Gly14Asp)	THOC3 (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371939	NM_032361.4(THOC3):c.587T>G (p.Met196Arg)	THOC3 (M196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216779	NM_032361.4(THOC3):c.350C>T (p.Thr117Met)	THOC3 (T117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212413	NM_032361.4(THOC3):c.91C>A (p.Pro31Thr)	THOC3 (P31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809259	GRCh37/hg19 5q35.2(chr5:175343531-175477274)x1	THOC3	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 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 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	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

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Links from Gene

Items: 36