ClinVar for Gene (Select 79192) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3110946	NM_024337.4(IRX1):c.974G>C (p.Ser325Thr)	IRX1 (S325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110945	NM_024337.4(IRX1):c.770C>A (p.Ala257Asp)	IRX1 (A257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110944	NM_024337.4(IRX1):c.755C>T (p.Pro252Leu)	IRX1 (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110943	NM_024337.4(IRX1):c.49C>T (p.Pro17Ser)	IRX1 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110942	NM_024337.4(IRX1):c.40G>C (p.Ala14Pro)	IRX1 (A14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110941	NM_024337.4(IRX1):c.1368C>A (p.Phe456Leu)	IRX1 (F456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110940	NM_024337.4(IRX1):c.1301C>T (p.Pro434Leu)	IRX1 (P434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3059417	NM_024337.4(IRX1):c.1272T>C (p.Asn424=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GBenign
Select item 3058995	NM_024337.4(IRX1):c.1074G>A (p.Leu358=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GBenign
Select item 3045718	NM_024337.4(IRX1):c.933C>T (p.His311=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GLikely benign
Select item 3038078	NM_024337.4(IRX1):c.960G>A (p.Ala320=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GBenign
Select item 3034796	NM_024337.4(IRX1):c.780T>C (p.Ala260=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GLikely benign
Select item 3033824	NM_024337.4(IRX1):c.738G>A (p.Glu246=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder	GLikely benign
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
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 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655280	NM_024337.4(IRX1):c.189G>A (p.Met63Ile)	IRX1 (M63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634341	NM_024337.4(IRX1):c.1357A>C (p.Lys453Gln)	IRX1 (K453Q)	Single nucleotide variant (missense variant)	IRX1-related disorder	GUncertain significance
Select item 2590270	NM_024337.4(IRX1):c.1381G>T (p.Asp461Tyr)	IRX1 (D461Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2578972	NM_024337.4(IRX1):c.42C>G (p.Ala14=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571214	NM_024337.4(IRX1):c.96T>G (p.Ala32=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2561393	NM_024337.4(IRX1):c.103G>T (p.Ala35Ser)	IRX1 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553036	NM_024337.4(IRX1):c.584C>T (p.Ala195Val)	IRX1 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547751	NM_024337.4(IRX1):c.1096T>A (p.Cys366Ser)	IRX1 (C366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546622	NM_024337.4(IRX1):c.356C>T (p.Pro119Leu)	IRX1 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535497	NM_024337.4(IRX1):c.218C>T (p.Ala73Val)	IRX1 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530061	NM_024337.4(IRX1):c.1024G>C (p.Gly342Arg)	IRX1 (G342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522124	NM_024337.4(IRX1):c.1028C>A (p.Ala343Glu)	IRX1 (A343E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518536	NM_024337.4(IRX1):c.94G>T (p.Ala32Ser)	IRX1 (A32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511432	NM_024337.4(IRX1):c.1433C>T (p.Pro478Leu)	IRX1 (P478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474717	NM_024337.4(IRX1):c.504G>T (p.Lys168Asn)	IRX1 (K168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461128	NM_024337.4(IRX1):c.830C>T (p.Pro277Leu)	IRX1 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454880	NM_024337.4(IRX1):c.779C>G (p.Ala260Gly)	IRX1 (A260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409745	NM_024337.4(IRX1):c.874G>A (p.Gly292Ser)	IRX1 (G292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409586	NM_024337.4(IRX1):c.1345G>A (p.Ala449Thr)	IRX1 (A449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384359	NM_024337.4(IRX1):c.764C>T (p.Pro255Leu)	IRX1 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381642	NM_024337.4(IRX1):c.267C>A (p.Phe89Leu)	IRX1 (F89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381397	NM_024337.4(IRX1):c.766G>C (p.Ala256Pro)	IRX1 (A256P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361500	NM_024337.4(IRX1):c.92C>T (p.Ala31Val)	IRX1 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338199	NM_024337.4(IRX1):c.761C>T (p.Ala254Val)	IRX1 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326309	NM_024337.4(IRX1):c.820G>A (p.Val274Ile)	IRX1 (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325097	NM_024337.4(IRX1):c.214G>C (p.Gly72Arg)	IRX1 (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307365	NM_024337.4(IRX1):c.275T>C (p.Met92Thr)	IRX1 (M92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302564	NM_024337.4(IRX1):c.211G>C (p.Ala71Pro)	IRX1 (A71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295233	NM_024337.4(IRX1):c.1271A>G (p.Asn424Ser)	IRX1 (N424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272814	NM_024337.4(IRX1):c.772C>T (p.Pro258Ser)	IRX1 (P258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259526	NM_024337.4(IRX1):c.1064C>T (p.Pro355Leu)	IRX1 (P355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1180547	GRCh37/hg19 5p15.33(chr5:13200-4012072)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979670	GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814661	GRCh37/hg19 5p15.33-15.32(chr5:2402960-5395826)x3	C5orf38, IRX2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814659	GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	CCT5, ADAMTS16 +27 more	Copy number loss	not provided	GPathogenic
Select item 814656	GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	ADAMTS16, AHRR +28 more	Copy number loss	not provided	GPathogenic
Select item 814655	GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 814651	GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 767992	NM_024337.4(IRX1):c.1333C>A (p.Pro445Thr)	IRX1 (P445T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767991	NM_024337.4(IRX1):c.318C>T (p.Pro106=)	IRX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 760027	NM_024337.4(IRX1):c.915C>A (p.Gly305=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739499	NM_024337.4(IRX1):c.207G>A (p.Pro69=)	IRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709740	NM_024337.4(IRX1):c.1254T>A (p.Ile418=)	IRX1	Single nucleotide variant (synonymous variant)	IRX1-related disorder +1 more	GBenign
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 624532	GRCh37/hg19 5p15.33(chr5:52186-4163906)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GLikely pathogenic
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 563026	GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 563025	GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	not provided	GPathogenic
Select item 563024	GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not provided	GPathogenic
Select item 563023	GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 563022	GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443692	GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 443691	GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	ADAMTS16, ADCY2 +62 more	Copy number gain	See cases	GPathogenic
Select item 443598	GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1	ADAMTS16, AHRR +28 more	Copy number loss	See cases	GPathogenic

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