ClinVar for Gene (Select 114899) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062849	GRCh37/hg19 5p13.2(chr5:33955464-34058555)x1	AMACR, C1QTNF3 +1 more	Copy number loss	not specified	GPathogenic
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2685153	GRCh37/hg19 5p13.2(chr5:33954880-34157068)x1	AMACR, C1QTNF3 +1 more	Copy number loss	not provided	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 2684412	GRCh37/hg19 5p13.3-13.2(chr5:33303213-34037349)x3	ADAMTS12, AMACR +4 more	Copy number gain	not provided	GUncertain significance
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 2655392	NM_181435.6(C1QTNF3):c.256C>T (p.His86Tyr)	C1QTNF3, C1QTNF3-AMACR (H86Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655391	NM_181435.6(C1QTNF3):c.396G>A (p.Pro132=)	C1QTNF3, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2599946	NM_181435.6(C1QTNF3):c.612G>T (p.Gln204His)	C1QTNF3, C1QTNF3-AMACR (Q131H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592490	NM_181435.6(C1QTNF3):c.151G>A (p.Gly51Ser)	C1QTNF3, C1QTNF3-AMACR (G51S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461574	NM_181435.6(C1QTNF3):c.943C>G (p.Leu315Val)	C1QTNF3, C1QTNF3-AMACR (L315V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 2322179	NM_181435.6(C1QTNF3):c.146G>A (p.Arg49His)	C1QTNF3-AMACR, C1QTNF3 (R49H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305967	NM_181435.6(C1QTNF3):c.338G>A (p.Ser113Asn)	C1QTNF3, C1QTNF3-AMACR (S113N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268785	NM_181435.6(C1QTNF3):c.193A>C (p.Thr65Pro)	C1QTNF3-AMACR, C1QTNF3 (T65P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246106	NM_181435.6(C1QTNF3):c.649A>T (p.Ile217Phe)	C1QTNF3, C1QTNF3-AMACR (I217F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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	AMACR, BRIX1 +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 979507	GRCh37/hg19 5p13.3-13.2(chr5:33501565-34167822)x3	ADAMTS12, SLC45A2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979503	GRCh37/hg19 5p13.2(chr5:33945587-34754248)x3	AMACR, RAI14 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
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 442667	GRCh37/hg19 5p13.2(chr5:33945082-34754248)x3	AMACR, C1QTNF3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 268192	GRCh37/hg19 5p13.2(chr5:33947411-34736875)x3	SLC45A2, AMACR +2 more	Copy number gain	not provided	GLikely benign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 221811	GRCh37/hg19 5p13.2(chr5:34003361-34663915)x3	AMACR, C1QTNF3 +1 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	LOC129993646, LOC129993647 +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	LOC123497907, LOC123497908 +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	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 144394	GRCh38/hg38 5p13.2(chr5:34001923-34715944)x3	AMACR, C1QTNF3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	LOC129993773, LOC129993774 +116 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49