ClinVar for Gene (Select 55299) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 3135088	NM_018321.4(BRIX1):c.914A>G (p.Asp305Gly)	BRIX1, TTC23L (D305G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135087	NM_018321.4(BRIX1):c.838A>G (p.Lys280Glu)	BRIX1, TTC23L (K280E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135085	NM_018321.4(BRIX1):c.661C>G (p.Gln221Glu)	BRIX1, LOC126807355 +1 more (Q221E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135084	NM_018321.4(BRIX1):c.637A>G (p.Asn213Asp)	BRIX1, LOC126807355 +1 more (N213D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135083	NM_018321.4(BRIX1):c.611A>G (p.His204Arg)	BRIX1, LOC126807355 +1 more (H204R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135082	NM_018321.4(BRIX1):c.598C>T (p.Pro200Ser)	BRIX1, LOC126807355 +1 more (P200S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135081	NM_018321.4(BRIX1):c.490C>A (p.Pro164Thr)	BRIX1, LOC126807355 +1 more (P164T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2487499	NM_018321.4(BRIX1):c.283G>T (p.Asp95Tyr)	BRIX1, TTC23L (D95Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484626	NM_018321.4(BRIX1):c.566T>G (p.Phe189Cys)	BRIX1, LOC126807355 +1 more (F189C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 2392932	NM_018321.4(BRIX1):c.221C>T (p.Thr74Ile)	BRIX1, TTC23L (T74I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2386170	NM_018321.4(BRIX1):c.32G>A (p.Gly11Asp)	BRIX1, TTC23L (G11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378143	NM_018321.4(BRIX1):c.79G>A (p.Glu27Lys)	BRIX1, TTC23L (E27K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327503	NM_018321.4(BRIX1):c.634G>A (p.Asp212Asn)	BRIX1, LOC126807355 +1 more (D212N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2313450	NM_018321.4(BRIX1):c.107C>A (p.Ala36Glu)	BRIX1, TTC23L (A36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287085	NM_018321.4(BRIX1):c.809G>T (p.Arg270Ile)	BRIX1, TTC23L (R270I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257645	NM_018321.4(BRIX1):c.359C>T (p.Ala120Val)	BRIX1, TTC23L (A120V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226393	NM_018321.4(BRIX1):c.970G>C (p.Glu324Gln)	BRIX1, TTC23L (E324Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217600	NM_018321.4(BRIX1):c.746G>A (p.Gly249Glu)	BRIX1, TTC23L (G249E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206599	NM_018321.4(BRIX1):c.479A>G (p.Lys160Arg)	BRIX1, LOC126807355 +1 more (K160R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1433583	NC_000005.9:g.(?_33944753)_(35089722_?)dup	AGXT2, AMACR +8 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1411822	NC_000005.9:g.(?_34007858)_(34935958_?)dup	C1QTNF3, AMACR +5 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
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 394637	GRCh37/hg19 5p13.2(chr5:34925121-34937384)x3	BRIX1, DNAJC21	Copy number gain	See cases	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46