14959[HGNC] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3313195	NM_022768.5(RBM15):c.19G>A (p.Asp7Asn)	LOC129931144, RBM15 (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152200	NM_022768.5(RBM15):c.29C>T (p.Pro10Leu)	LOC129931144, RBM15 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215873	NM_022768.5(RBM15):c.32G>A (p.Arg11Gln)	LOC129931144, RBM15 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297745	NM_022768.5(RBM15):c.49C>T (p.Arg17Trp)	LOC129931144, RBM15 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387833	NM_022768.5(RBM15):c.61C>T (p.Pro21Ser)	LOC129931144, RBM15 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233108	NM_022768.5(RBM15):c.65T>A (p.Leu22Gln)	LOC129931144, RBM15 (L22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152202	NM_022768.5(RBM15):c.73A>G (p.Thr25Ala)	LOC129931144, RBM15 (T25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206185	NM_022768.5(RBM15):c.74C>G (p.Thr25Arg)	LOC129931144, RBM15 (T25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316768	NM_022768.5(RBM15):c.89G>A (p.Arg30Gln)	LOC129931144, RBM15 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152193	NM_022768.5(RBM15):c.104G>A (p.Arg35His)	LOC129931144, RBM15 (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597257	NM_022768.5(RBM15):c.157G>C (p.Val53Leu)	LOC129931144, RBM15 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338014	NM_022768.5(RBM15):c.426C>G (p.Ser142Arg)	RBM15 (S142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471830	NM_022768.5(RBM15):c.458C>T (p.Ser153Phe)	RBM15 (S153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456993	NM_022768.5(RBM15):c.472T>G (p.Ser158Ala)	RBM15 (S158A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 780254	NM_022768.5(RBM15):c.486C>T (p.Gly162=)	RBM15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3313193	NM_022768.5(RBM15):c.617A>G (p.His206Arg)	RBM15 (H206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391731	NM_022768.5(RBM15):c.709C>T (p.Arg237Cys)	RBM15 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272571	NM_022768.5(RBM15):c.763C>T (p.Arg255Cys)	RBM15 (R255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402878	NM_022768.5(RBM15):c.799C>T (p.Pro267Ser)	RBM15 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152203	NM_022768.5(RBM15):c.803C>T (p.Pro268Leu)	RBM15 (P268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152204	NM_022768.5(RBM15):c.844C>T (p.His282Tyr)	RBM15 (H282Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152205	NM_022768.5(RBM15):c.990A>C (p.Glu330Asp)	RBM15 (E330D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313197	NM_022768.5(RBM15):c.1007A>G (p.Tyr336Cys)	RBM15 (Y336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242844	NM_022768.5(RBM15):c.1069C>T (p.Pro357Ser)	RBM15 (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152194	NM_022768.5(RBM15):c.1312A>G (p.Ile438Val)	RBM15 (I438V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323506	NM_022768.5(RBM15):c.1355C>T (p.Thr452Ile)	RBM15 (T452I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775574	NM_022768.5(RBM15):c.1617G>A (p.Gln539=)	RBM15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722331	NM_022768.5(RBM15):c.1670C>T (p.Ala557Val)	RBM15 (A557V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2280280	NM_022768.5(RBM15):c.1697A>G (p.Asp566Gly)	RBM15 (D566G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273206	NM_022768.5(RBM15):c.1738C>G (p.Leu580Val)	RBM15 (L580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313194	NM_022768.5(RBM15):c.1757G>T (p.Trp586Leu)	RBM15 (W586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152195	NM_022768.5(RBM15):c.1765C>T (p.Pro589Ser)	RBM15 (P589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237294	NM_022768.5(RBM15):c.1775C>T (p.Pro592Leu)	RBM15 (P592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299639	NM_022768.5(RBM15):c.1817C>G (p.Pro606Arg)	LOC112577475, RBM15 (P606R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395995	NM_022768.5(RBM15):c.1840C>G (p.Leu614Val)	LOC112577475, RBM15 (L614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313191	NM_022768.5(RBM15):c.1906A>G (p.Arg636Gly)	LOC112577475, RBM15 (R636G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 438785	NM_022768.5(RBM15):c.1912C>A (p.Gln638Lys)	LOC112577475, RBM15 (Q638K)	Single nucleotide variant (missense variant)	Neuroblastoma	Gother
Select item 2512177	NM_022768.5(RBM15):c.2060A>G (p.Asp687Gly)	LOC112577475, RBM15 (D687G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152196	NM_022768.5(RBM15):c.2072C>T (p.Ser691Phe)	LOC112577475, RBM15 (S691F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152197	NM_022768.5(RBM15):c.2083C>T (p.Leu695Phe)	LOC112577475, RBM15 (L695F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152198	NM_022768.5(RBM15):c.2135G>C (p.Ser712Thr)	LOC112577475, RBM15 (S712T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310791	NM_022768.5(RBM15):c.2135G>A (p.Ser712Asn)	LOC112577475, RBM15 (S712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548208	NM_022768.5(RBM15):c.2197A>G (p.Thr733Ala)	LOC112577475, RBM15 (T733A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313198	NM_022768.5(RBM15):c.2225C>T (p.Pro742Leu)	LOC112577475, RBM15 (P742L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152199	NM_022768.5(RBM15):c.2373G>T (p.Met791Ile)	RBM15 (M791I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313192	NM_022768.5(RBM15):c.2374C>A (p.Leu792Ile)	RBM15 (L792I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720992	NM_022768.5(RBM15):c.2466T>C (p.Thr822=)	RBM15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291536	NM_022768.5(RBM15):c.2474A>C (p.Lys825Thr)	RBM15 (K825T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269568	NM_022768.5(RBM15):c.2552T>C (p.Val851Ala)	RBM15 (V851A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1809023	GRCh37/hg19 1p13.3(chr1:110662135-111401322)x3	KCNA10, KCNA2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1459387	NC_000001.10:g.(?_110603355)_(111147404_?)del	ALX3, KCNA10 +8 more	Deletion	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 68