460[Gene ID] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	LOC126805925, LOC126805926 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 2639585	NM_004319.3(ASTN1):c.3878A>G (p.Glu1293Gly)	ASTN1 (E1293G +1 more)	Single nucleotide variant (missense variant +1 more)	ASTN1-related condition +1 more	GLikely benign
Select item 2639586	NM_004319.3(ASTN1):c.3825G>A (p.Thr1275=)	ASTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605517	NM_004319.3(ASTN1):c.3769G>A (p.Glu1257Lys)	ASTN1 (E1257K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057643	NM_004319.3(ASTN1):c.3734G>A (p.Arg1245His)	ASTN1 (R1245H +1 more)	Single nucleotide variant (missense variant +1 more)	ASTN1-related condition	GLikely benign
Select item 2317765	NM_004319.3(ASTN1):c.3731G>A (p.Arg1244Gln)	ASTN1 (R1244Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 440992	NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val)	ASTN1 (E1172V +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2291574	NM_004319.3(ASTN1):c.3415G>A (p.Val1139Met)	ASTN1 (V1139M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256542	NM_004319.3(ASTN1):c.3412G>A (p.Asp1138Asn)	ASTN1 (D1138N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064662	NM_004319.3(ASTN1):c.3334C>T (p.Arg1112Ter)	ASTN1 (R1112* +1 more)	Single nucleotide variant (nonsense)	not specified	GLikely pathogenic
Select item 438600	NM_004319.3(ASTN1):c.3283A>C (p.Met1095Leu)	ASTN1 (M1095L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2556919	NM_004319.3(ASTN1):c.3214A>C (p.Lys1072Gln)	ASTN1 (K1080Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509025	NM_004319.3(ASTN1):c.3179G>A (p.Arg1060His)	ASTN1 (R1060H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569888	NM_004319.3(ASTN1):c.3089C>T (p.Thr1030Met)	ASTN1 (T1030M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2281818	NM_004319.3(ASTN1):c.3073G>C (p.Val1025Leu)	ASTN1 (V1033L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339931	NM_004319.3(ASTN1):c.2885A>T (p.Glu962Val)	ASTN1 (E962V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466656	NM_004319.3(ASTN1):c.2863C>G (p.Pro955Ala)	ASTN1 (P963A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345344	NM_004319.3(ASTN1):c.2824T>A (p.Ser942Thr)	ASTN1 (S950T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 438601	NM_004319.3(ASTN1):c.2770C>T (p.His924Tyr)	ASTN1 (H924Y +1 more)	Single nucleotide variant (missense variant)	Abnormal corpus callosum morphology	GUncertain significance
Select item 2508233	NM_004319.3(ASTN1):c.2701C>T (p.Arg901Trp)	ASTN1 (R901W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639587	NM_004319.3(ASTN1):c.2671+6T>C	ASTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2249715	NM_004319.3(ASTN1):c.2639G>A (p.Arg880Gln)	ASTN1 (R880Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373198	NM_004319.3(ASTN1):c.2539G>A (p.Ala847Thr)	ASTN1 (A847T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381669	NM_004319.3(ASTN1):c.2434C>T (p.Arg812Trp)	ASTN1 (R820W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482901	NM_004319.3(ASTN1):c.2389T>C (p.Phe797Leu)	ASTN1 (F797L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528537	NM_004319.3(ASTN1):c.2302G>A (p.Val768Met)	ASTN1 (V776M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402149	NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg)	ASTN1 (G742R +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 2352081	NM_004319.3(ASTN1):c.2144G>C (p.Ser715Thr)	ASTN1 (S715T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460138	NM_004319.3(ASTN1):c.2104A>G (p.Ile702Val)	ASTN1 (I702V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480947	NM_004319.3(ASTN1):c.2084A>G (p.Asp695Gly)	ASTN1 (D703G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247659	NM_004319.3(ASTN1):c.1937G>A (p.Arg646His)	ASTN1 (R646H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312833	NM_004319.3(ASTN1):c.1910T>C (p.Met637Thr)	ASTN1 (M637T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350614	NM_004319.3(ASTN1):c.1885G>A (p.Val629Met)	ASTN1 (V637M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369806	NM_004319.3(ASTN1):c.1847G>A (p.Arg616His)	ASTN1 (R616H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480048	NM_004319.3(ASTN1):c.1799C>T (p.Pro600Leu)	ASTN1 (P600L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521454	NM_004319.3(ASTN1):c.1798C>T (p.Pro600Ser)	ASTN1 (P600S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274937	NM_004319.3(ASTN1):c.1777G>T (p.Val593Phe)	ASTN1 (V601F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483493	NM_004319.3(ASTN1):c.1751C>T (p.Thr584Ile)	ASTN1 (T584I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294652	NM_004319.3(ASTN1):c.1684T>C (p.Ser562Pro)	ASTN1 (S562P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469224	NM_004319.3(ASTN1):c.1624A>G (p.Met542Val)	ASTN1 (M542V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719893	NM_004319.3(ASTN1):c.1527A>G (p.Pro509=)	ASTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251614	NM_004319.3(ASTN1):c.1432G>A (p.Glu478Lys)	ASTN1 (E478K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606648	NM_004319.3(ASTN1):c.1420C>G (p.Gln474Glu)	ASTN1 (Q474E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026650	NM_004319.3(ASTN1):c.1329T>C (p.Pro443=)	ASTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267131	NM_004319.3(ASTN1):c.1269T>G (p.Asp423Glu)	ASTN1 (D423E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379780	NM_004319.3(ASTN1):c.1255C>A (p.His419Asn)	ASTN1 (H419N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518520	NM_004319.3(ASTN1):c.1210G>A (p.Val404Ile)	ASTN1 (V404I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555044	NM_004319.3(ASTN1):c.1154C>T (p.Thr385Ile)	ASTN1 (T385I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555504	NM_004319.3(ASTN1):c.1145A>G (p.Asn382Ser)	ASTN1 (N382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374546	NM_004319.3(ASTN1):c.1069C>A (p.Pro357Thr)	ASTN1 (P357T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317868	NM_004319.3(ASTN1):c.1058C>T (p.Ala353Val)	ASTN1 (A353V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388948	NM_004319.3(ASTN1):c.1040G>A (p.Gly347Glu)	ASTN1 (G347E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233009	NM_004319.3(ASTN1):c.989A>G (p.Lys330Arg)	ASTN1 (K330R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370746	NM_004319.3(ASTN1):c.868A>G (p.Ser290Gly)	ASTN1 (S290G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307492	NM_004319.3(ASTN1):c.806C>T (p.Thr269Met)	ASTN1 (T269M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548235	NM_004319.3(ASTN1):c.701G>A (p.Arg234Gln)	ASTN1 (R234Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479536	NM_004319.3(ASTN1):c.619G>A (p.Val207Met)	ASTN1 (V207M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535983	NM_004319.3(ASTN1):c.277G>T (p.Val93Leu)	ASTN1 (V93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530350	NM_004319.3(ASTN1):c.145C>A (p.Arg49Ser)	ASTN1 (R49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512002	NM_004319.3(ASTN1):c.79G>A (p.Val27Met)	ASTN1 (V27M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225019	NM_004319.3(ASTN1):c.77A>C (p.Asp26Ala)	ASTN1 (D26A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639588	NM_004319.3(ASTN1):c.66G>C (p.Thr22=)	ASTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221447	NM_004319.3(ASTN1):c.64A>C (p.Thr22Pro)	ASTN1 (T22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229403	NM_004319.3(ASTN1):c.56T>G (p.Val19Gly)	ASTN1 (V19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639589	NM_004319.3(ASTN1):c.54G>C (p.Ala18=)	ASTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262901	NM_004319.3(ASTN1):c.46C>G (p.Pro16Ala)	ASTN1 (P16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520388	NM_004319.3(ASTN1):c.13G>C (p.Gly5Arg)	ASTN1 (G5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1808554	GRCh37/hg19 1q25.2(chr1:176821896-176964273)x3	ASTN1	Copy number gain	not provided	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341238	GRCh37/hg19 1q25.2(chr1:176821896-176964175)x3	ASTN1	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979310	GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	CACYBP, TEX35 +13 more	Copy number loss	not provided	GUncertain significance
Select item 814144	GRCh37/hg19 1q25.2(chr1:176782672-176887800)x1	ASTN1, PAPPA2	Copy number loss	not provided	GUncertain significance
Select item 814142	GRCh37/hg19 1q25.1-25.2(chr1:174974791-177024710)x1	MRPS14, KIAA0040 +6 more	Copy number loss	not provided	GUncertain significance
Select item 806424	GRCh37/hg19 1q25.2(chr1:176983927-176993868)x0	ASTN1	Copy number loss	not provided	GUncertain significance
Select item 688466	GRCh37/hg19 1q25.2(chr1:176913693-177762061)x1	ASTN1, BRINP2	Copy number loss	not provided	GUncertain significance
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 565200	GRCh37/hg19 1q25.2(chr1:177046326-177275885)x3	ASTN1, BRINP2	Copy number gain	not provided	GUncertain significance
Select item 565199	GRCh37/hg19 1q25.2(chr1:177044080-177295587)x3	ASTN1, BRINP2	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 96