ClinVar for Gene (Select 51360) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361062	NM_015884.4(MBTPS2):c.1151G>A (p.Ser384Asn)	MBTPS2 (S384N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355768	NM_015884.4(MBTPS2):c.1261+5G>C	MBTPS2	Single nucleotide variant (intron variant)	MBTPS2-related disorder	GUncertain significance
Select item 3343637	NM_015884.4(MBTPS2):c.1397T>C (p.Leu466Ser)	MBTPS2 (L466S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342176	NM_015884.4(MBTPS2):c.804T>C (p.Ile268=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3333764	NM_206923.4(YY2):c.127G>A (p.Glu43Lys)	MBTPS2, YY2 (E43K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333763	NM_206923.4(YY2):c.504G>C (p.Lys168Asn)	MBTPS2, YY2 (K168N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293581	NM_015884.4(MBTPS2):c.131G>C (p.Ser44Thr)	MBTPS2 (S44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234712	NM_015884.4(MBTPS2):c.689T>C (p.Val230Ala)	MBTPS2 (V230A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3191702	NM_206923.4(YY2):c.312G>T (p.Gln104His)	MBTPS2, YY2 (Q104H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191701	NM_206923.4(YY2):c.118G>A (p.Val40Ile)	MBTPS2, YY2 (V40I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191700	NM_206923.4(YY2):c.1105A>C (p.Lys369Gln)	MBTPS2, YY2 (K369Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124150	NM_015884.4(MBTPS2):c.871C>A (p.Gln291Lys)	MBTPS2 (Q291K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124149	NM_015884.4(MBTPS2):c.316A>G (p.Met106Val)	MBTPS2 (M106V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065261	NM_015884.4(MBTPS2):c.971-6_971-5del	MBTPS2	Microsatellite (intron variant)	IFAP syndrome 1, with or without BRESHECK syndrome	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3021325	NM_015884.4(MBTPS2):c.917T>C (p.Ile306Thr)	MBTPS2 (I306T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020907	NM_015884.4(MBTPS2):c.1337+15G>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2995077	NM_015884.4(MBTPS2):c.224+20G>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992266	NM_015884.4(MBTPS2):c.254T>C (p.Ile85Thr)	MBTPS2 (I85T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991442	NM_015884.4(MBTPS2):c.438+10G>A	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2983947	NM_015884.4(MBTPS2):c.1061G>A (p.Arg354His)	MBTPS2 (R354H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974115	NM_015884.4(MBTPS2):c.16C>T (p.Leu6=)	LOC130068038, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961377	NM_015884.4(MBTPS2):c.980G>A (p.Arg327Gln)	MBTPS2 (R327Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957331	NM_015884.4(MBTPS2):c.624T>C (p.His208=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910481	NM_015884.4(MBTPS2):c.638C>T (p.Ser213Leu)	MBTPS2 (S213L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909530	NM_015884.4(MBTPS2):c.859G>A (p.Val287Ile)	MBTPS2 (V287I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895719	NM_015884.4(MBTPS2):c.123C>T (p.Asn41=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895445	NM_015884.4(MBTPS2):c.1482G>T (p.Gly494=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893519	NM_015884.4(MBTPS2):c.390_392del (p.Ser136del)	MBTPS2 (S136del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2875008	NM_015884.4(MBTPS2):c.63C>T (p.Asp21=)	LOC130068039, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869744	NM_015884.4(MBTPS2):c.1238A>T (p.His413Leu)	MBTPS2 (H413L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859302	NM_015884.4(MBTPS2):c.363CTC[1] (p.Ser136del)	MBTPS2 (S136del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2840987	NM_015884.4(MBTPS2):c.1044A>G (p.Arg348=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806015	NM_015884.4(MBTPS2):c.1318G>T (p.Val440Phe)	MBTPS2 (V440F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800951	NM_015884.4(MBTPS2):c.1338-18T>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795486	NM_015884.4(MBTPS2):c.554G>A (p.Arg185Gln)	MBTPS2 (R185Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787418	NM_015884.4(MBTPS2):c.1452T>G (p.Ile484Met)	MBTPS2 (I484M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772756	NM_015884.4(MBTPS2):c.670+8A>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759972	NM_015884.4(MBTPS2):c.1346T>C (p.Ile449Thr)	MBTPS2 (I449T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737104	NM_015884.4(MBTPS2):c.1523A>C (p.Asn508Thr)	MBTPS2 (N508T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713721	NM_015884.4(MBTPS2):c.903C>T (p.Ala301=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710172	NM_015884.4(MBTPS2):c.702G>T (p.Leu234Phe)	MBTPS2 (L234F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706163	NM_015884.4(MBTPS2):c.971-7T>C	MBTPS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704996	NM_015884.4(MBTPS2):c.31G>A (p.Val11Met)	MBTPS2 (V11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694075	NM_015884.4(MBTPS2):c.550G>A (p.Val184Ile)	MBTPS2 (V184I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2660156	NM_015884.4(MBTPS2):c.1461T>C (p.Asn487=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660155	NM_015884.4(MBTPS2):c.1026T>C (p.Asp342=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660154	NM_015884.4(MBTPS2):c.933T>C (p.Ser311=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660153	NM_206923.4(YY2):c.867C>T (p.Gly289=)	YY2, MBTPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660152	NM_015884.4(MBTPS2):c.339T>C (p.Tyr113=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660151	NM_015884.4(MBTPS2):c.67G>C (p.Val23Leu)	LOC130068039, MBTPS2 (V23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631574	NM_015884.4(MBTPS2):c.304T>G (p.Leu102Val)	MBTPS2 (L102V)	Single nucleotide variant (missense variant)	MBTPS2-related disorder	GUncertain significance
Select item 2595778	NM_015884.4(MBTPS2):c.901G>A (p.Ala301Thr)	MBTPS2 (A301T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2582521	NM_015884.4(MBTPS2):c.670+2688G>C	MBTPS2, YY2	Single nucleotide variant (5 prime UTR variant +1 more)	IFAP syndrome 1, with or without BRESHECK syndrome +3 more	GUncertain significance
Select item 2579877	NM_015884.4(MBTPS2):c.842A>T (p.His281Leu)	MBTPS2 (H281L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571912	NM_015884.4(MBTPS2):c.910C>A (p.Pro304Thr)	MBTPS2 (P304T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558245	NM_206923.4(YY2):c.743G>A (p.Gly248Glu)	MBTPS2, YY2 (G248E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543455	NM_206923.4(YY2):c.439G>A (p.Gly147Ser)	MBTPS2, YY2 (G147S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518607	NM_015884.4(MBTPS2):c.19G>C (p.Val7Leu)	MBTPS2 (V7L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2513210	NM_206923.4(YY2):c.68A>G (p.His23Arg)	MBTPS2, YY2 (H23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2492207	NM_206923.4(YY2):c.553G>A (p.Val185Met)	MBTPS2, YY2 (V185M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476931	NM_206923.4(YY2):c.332T>G (p.Ile111Ser)	MBTPS2, YY2 (I111S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472683	NM_206923.4(YY2):c.574G>A (p.Asp192Asn)	MBTPS2, YY2 (D192N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456090	NM_206923.4(YY2):c.568C>T (p.Pro190Ser)	MBTPS2, YY2 (P190S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2441801	NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)	MBTPS2 (G176E)	Single nucleotide variant (missense variant)	Olmsted syndrome, X-linked +3 more	GUncertain significance
Select item 2433664	NM_015884.4(MBTPS2):c.1243C>G (p.Leu415Val)	MBTPS2 (L415V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426217	NC_000023.10:g.(?_21857853)_(21900773_?)del	MBTPS2, YY2	Deletion	not provided	GUncertain significance
Select item 2417323	NM_015884.4(MBTPS2):c.875A>G (p.Asp292Gly)	MBTPS2 (D292G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409370	NM_206923.4(YY2):c.1007C>G (p.Thr336Ser)	MBTPS2, YY2 (T336S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389782	NM_015884.4(MBTPS2):c.874G>A (p.Asp292Asn)	MBTPS2 (D292N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340464	NM_206923.4(YY2):c.622C>T (p.Pro208Ser)	MBTPS2, YY2 (P208S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339320	NM_015884.4(MBTPS2):c.1207C>A (p.Pro403Thr)	MBTPS2 (P403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338719	NM_206923.4(YY2):c.551C>G (p.Ser184Cys)	MBTPS2, YY2 (S184C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324481	NM_015884.4(MBTPS2):c.707T>C (p.Ile236Thr)	MBTPS2 (I236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2304516	NM_206923.4(YY2):c.508G>A (p.Glu170Lys)	MBTPS2, YY2 (E170K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284805	NM_206923.4(YY2):c.284A>G (p.Asn95Ser)	MBTPS2, YY2 (N95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275855	NM_015884.4(MBTPS2):c.736C>T (p.Leu246Phe)	MBTPS2 (L246F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272876	NM_206923.4(YY2):c.409C>T (p.Arg137Cys)	MBTPS2, YY2 (R137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269833	NM_206923.4(YY2):c.581A>G (p.Asn194Ser)	MBTPS2, YY2 (N194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258566	NM_015884.4(MBTPS2):c.145C>T (p.His49Tyr)	MBTPS2 (H49Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251310	NM_206923.4(YY2):c.1009G>T (p.Gly337Cys)	MBTPS2, YY2 (G337C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2175025	NM_015884.4(MBTPS2):c.843T>C (p.His281=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2158030	NM_015884.4(MBTPS2):c.1185T>C (p.Thr395=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2156594	NM_015884.4(MBTPS2):c.1417A>C (p.Asn473His)	MBTPS2 (N473H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2140071	NM_015884.4(MBTPS2):c.384TTC[1] (p.Ser136del)	MBTPS2 (S136del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2127698	NM_015884.4(MBTPS2):c.366_401dup (p.Ser136_Leu137insSerSerSerSerSerSerSerSerSerSerSerSer)	MBTPS2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2112237	NM_015884.4(MBTPS2):c.33G>A (p.Val11=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2099013	NM_015884.4(MBTPS2):c.67G>T (p.Val23Leu)	LOC130068039, MBTPS2 (V23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096645	NM_015884.4(MBTPS2):c.12G>A (p.Val4=)	LOC130068038, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075970	NM_015884.4(MBTPS2):c.54C>T (p.Tyr18=)	LOC130068039, MBTPS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060666	NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[3] (p.Ser136_Leu137insSerSerSerSerSerSer)	MBTPS2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2047440	NM_015884.4(MBTPS2):c.405_407del (p.Ser136del)	MBTPS2 (S136del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2011074	NM_015884.4(MBTPS2):c.245T>C (p.Phe82Ser)	MBTPS2 (F82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987518	NM_015884.4(MBTPS2):c.790-11C>T	MBTPS2	Single nucleotide variant (intron variant)	not provided	GBenign

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