RAI14[gene] - ClinVar

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Items: 78

	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 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 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 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 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 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 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 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	FYB1, GDNF +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

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Items: 78