RAI14[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	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
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 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
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 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 144394	GRCh38/hg38 5p13.2(chr5:34001923-34715944)x3	AMACR, C1QTNF3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 773931	NM_015577.3(RAI14):c.93T>G (p.Asp31Glu)	RAI14 (D34E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549957	NM_015577.3(RAI14):c.153T>G (p.Ser51Arg)	RAI14 (S43R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489396	NM_015577.3(RAI14):c.239C>G (p.Thr80Arg)	RAI14 (T80R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151217	NM_015577.3(RAI14):c.265G>A (p.Ala89Thr)	RAI14 (A92T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312566	NM_015577.3(RAI14):c.277G>A (p.Ala93Thr)	RAI14 (A85T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151218	NM_015577.3(RAI14):c.386A>T (p.Gln129Leu)	RAI14 (Q121L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251454	NM_015577.3(RAI14):c.395T>C (p.Leu132Pro)	RAI14 (L135P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151219	NM_015577.3(RAI14):c.418G>A (p.Glu140Lys)	RAI14 (E132K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312563	NM_015577.3(RAI14):c.433A>G (p.Ile145Val)	RAI14 (I145V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151220	NM_015577.3(RAI14):c.515T>A (p.Leu172Gln)	RAI14 (L175Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593346	NM_015577.3(RAI14):c.692C>A (p.Ala231Glu)	RAI14 (A234E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354588	NM_015577.3(RAI14):c.751A>G (p.Thr251Ala)	RAI14 (T251A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384382	NM_015577.3(RAI14):c.796A>G (p.Arg266Gly)	RAI14 (R266G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151221	NM_015577.3(RAI14):c.882A>G (p.Ile294Met)	RAI14 (I265M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464299	NM_015577.3(RAI14):c.911C>T (p.Ser304Leu)	RAI14 (S275L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151222	NM_015577.3(RAI14):c.941C>G (p.Ala314Gly)	RAI14 (A285G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151223	NM_015577.3(RAI14):c.959G>A (p.Arg320Gln)	RAI14 (R323Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267873	NM_015577.3(RAI14):c.985A>G (p.Ser329Gly)	RAI14 (S300G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151224	NM_015577.3(RAI14):c.986G>C (p.Ser329Thr)	RAI14 (S321T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407649	NM_015577.3(RAI14):c.1112A>C (p.Gln371Pro)	RAI14 (Q363P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151207	NM_015577.3(RAI14):c.1129G>A (p.Glu377Lys)	RAI14 (E348K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523634	NM_015577.3(RAI14):c.1143C>A (p.Asp381Glu)	RAI14 (D381E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518162	NM_015577.3(RAI14):c.1187C>T (p.Pro396Leu)	RAI14 (P388L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473658	NM_015577.3(RAI14):c.1229A>G (p.Lys410Arg)	RAI14 (K381R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151209	NM_015577.3(RAI14):c.1253A>T (p.His418Leu)	RAI14 (H389L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312567	NM_015577.3(RAI14):c.1459G>C (p.Glu487Gln)	RAI14 (E479Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613409	NM_015577.3(RAI14):c.1467G>C (p.Gln489His)	RAI14 (Q460H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232919	NM_015577.3(RAI14):c.1545C>A (p.Ser515Arg)	RAI14 (S486R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269701	NM_015577.3(RAI14):c.1546A>G (p.Met516Val)	RAI14 (M487V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151210	NM_015577.3(RAI14):c.1577G>A (p.Arg526Lys)	RAI14 (R497K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548143	NM_015577.3(RAI14):c.1637G>C (p.Ser546Thr)	RAI14 (S546T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267798	NM_015577.3(RAI14):c.1696G>A (p.Gly566Ser)	RAI14 (G569S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312570	NM_015577.3(RAI14):c.1699A>G (p.Thr567Ala)	RAI14 (T567A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240521	NM_015577.3(RAI14):c.1702G>C (p.Val568Leu)	RAI14 (V539L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151211	NM_015577.3(RAI14):c.1718T>A (p.Val573Glu)	RAI14 (V544E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353793	NM_015577.3(RAI14):c.1729G>A (p.Glu577Lys)	RAI14 (E548K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312564	NM_015577.3(RAI14):c.1889T>G (p.Met630Arg)	RAI14 (M622R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342745	NM_015577.3(RAI14):c.2134G>A (p.Glu712Lys)	RAI14 (E704K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208809	NM_015577.3(RAI14):c.2144A>C (p.Gln715Pro)	RAI14 (Q707P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151212	NM_015577.3(RAI14):c.2221C>T (p.Arg741Trp)	RAI14 (R733W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330178	NM_015577.3(RAI14):c.2243A>T (p.Glu748Val)	RAI14 (E748V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341846	NM_015577.3(RAI14):c.2324A>T (p.Glu775Val)	RAI14 (E778V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151213	NM_015577.3(RAI14):c.2356C>T (p.Arg786Trp)	RAI14 (R786W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151214	NM_015577.3(RAI14):c.2469G>T (p.Gln823His)	RAI14 (Q794H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151215	NM_015577.3(RAI14):c.2545G>A (p.Val849Ile)	RAI14 (V841I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312565	NM_015577.3(RAI14):c.2551G>A (p.Glu851Lys)	RAI14 (E822K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151216	NM_015577.3(RAI14):c.2554C>T (p.Leu852Phe)	RAI14 (L823F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334326	NM_015577.3(RAI14):c.2642A>T (p.Asp881Val)	RAI14 (D881V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275792	NM_015577.3(RAI14):c.2662T>C (p.Ser888Pro)	RAI14 (S888P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558388	NM_015577.3(RAI14):c.2764C>G (p.Gln922Glu)	RAI14 (Q893E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363369	NM_015577.3(RAI14):c.2814A>C (p.Gln938His)	RAI14 (Q909H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312569	NM_015577.3(RAI14):c.2904A>T (p.Gln968His)	RAI14 (Q968H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	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 979503	GRCh37/hg19 5p13.2(chr5:33945587-34754248)x3	AMACR, RAI14 +2 more	Copy number gain	not provided	GUncertain significance
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 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	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 395201	GRCh37/hg19 5p13.2(chr5:34559420-34672851)x3	RAI14	Copy number gain	See cases	GLikely benign
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 221811	GRCh37/hg19 5p13.2(chr5:34003361-34663915)x3	AMACR, C1QTNF3 +1 more	Copy number gain	Premature ovarian failure	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85