15680[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 3169640	NM_016642.4(SPTBN5):c.10990G>T (p.Ala3664Ser)	SPTBN5 (A3664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645200	NM_016642.4(SPTBN5):c.10979C>T (p.Thr3660Met)	SPTBN5 (T3660M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3047247	NM_016642.4(SPTBN5):c.10977C>T (p.Cys3659=)	SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 3169639	NM_016642.4(SPTBN5):c.10925A>T (p.Gln3642Leu)	SPTBN5 (Q3642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169638	NM_016642.4(SPTBN5):c.10906C>G (p.Leu3636Val)	SPTBN5 (L3636V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807212	NM_016642.4(SPTBN5):c.10896G>A (p.Trp3632Ter)	SPTBN5 (W3632*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3322506	NM_016642.4(SPTBN5):c.10874C>G (p.Ser3625Cys)	SPTBN5 (S3625C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051654	NM_016642.4(SPTBN5):c.10872G>A (p.Pro3624=)	SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 3341576	NM_016642.4(SPTBN5):c.10871C>G (p.Pro3624Arg)	SPTBN5 (P3624R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2588431	NM_016642.4(SPTBN5):c.10871C>T (p.Pro3624Leu)	SPTBN5 (P3624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057154	NM_016642.4(SPTBN5):c.10855A>G (p.Ile3619Val)	SPTBN5 (I3619V)	Single nucleotide variant (missense variant)	SPTBN5-related disorder	GBenign
Select item 2210095	NM_016642.4(SPTBN5):c.10852G>C (p.Glu3618Gln)	SPTBN5 (E3618Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480686	NM_016642.4(SPTBN5):c.10847G>A (p.Gly3616Glu)	SPTBN5 (G3616E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169637	NM_016642.4(SPTBN5):c.10846G>C (p.Gly3616Arg)	SPTBN5 (G3616R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540685	NM_016642.4(SPTBN5):c.10844G>C (p.Ser3615Thr)	SPTBN5 (S3615T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645201	NM_016642.4(SPTBN5):c.10842C>A (p.Thr3614=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169636	NM_016642.4(SPTBN5):c.10829C>T (p.Ser3610Phe)	SPTBN5 (S3610F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372938	NM_016642.4(SPTBN5):c.10805G>T (p.Arg3602Leu)	SPTBN5 (R3602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342476	NM_016642.4(SPTBN5):c.10804C>T (p.Arg3602Cys)	SPTBN5 (R3602C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2617708	NM_016642.4(SPTBN5):c.10802G>A (p.Gly3601Asp)	SPTBN5 (G3601D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3047516	NM_016642.4(SPTBN5):c.10799G>A (p.Arg3600Gln)	SPTBN5 (R3600Q)	Single nucleotide variant (missense variant)	SPTBN5-related disorder	GLikely benign
Select item 3322495	NM_016642.4(SPTBN5):c.10784G>A (p.Arg3595Gln)	SPTBN5 (R3595Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169635	NM_016642.4(SPTBN5):c.10783C>T (p.Arg3595Trp)	SPTBN5 (R3595W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322478	NM_016642.4(SPTBN5):c.10765C>G (p.Leu3589Val)	SPTBN5 (L3589V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203791	NM_016642.4(SPTBN5):c.10757T>C (p.Ile3586Thr)	SPTBN5 (I3586T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057542	NM_016642.4(SPTBN5):c.10755C>T (p.Ser3585=)	SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 2645202	NM_016642.4(SPTBN5):c.10719C>T (p.Phe3573=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169634	NM_016642.4(SPTBN5):c.10700G>A (p.Gly3567Asp)	SPTBN5 (G3567D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288750	NM_016642.4(SPTBN5):c.10691A>C (p.Asn3564Thr)	SPTBN5 (N3564T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2341805	NM_016642.4(SPTBN5):c.10687G>C (p.Gly3563Arg)	SPTBN5 (G3563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322504	NM_016642.4(SPTBN5):c.10685G>T (p.Arg3562Leu)	SPTBN5 (R3562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380300	NM_016642.4(SPTBN5):c.10684C>T (p.Arg3562Cys)	SPTBN5 (R3562C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297825	NM_016642.4(SPTBN5):c.10674G>T (p.Trp3558Cys)	SPTBN5 (W3558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169633	NM_016642.4(SPTBN5):c.10672T>C (p.Trp3558Arg)	SPTBN5 (W3558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605499	NM_016642.4(SPTBN5):c.10667G>T (p.Ser3556Ile)	SPTBN5 (S3556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051130	NM_016642.4(SPTBN5):c.10665G>C (p.Ser3555=)	SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 2566768	NM_016642.4(SPTBN5):c.10664C>T (p.Ser3555Leu)	SPTBN5 (S3555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645203	NM_016642.4(SPTBN5):c.10656G>A (p.Gln3552=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2570143	NM_016642.4(SPTBN5):c.10652G>C (p.Arg3551Thr)	SPTBN5 (R3551T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400551	NM_016642.4(SPTBN5):c.10648G>A (p.Gly3550Arg)	SPTBN5 (G3550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169632	NM_016642.4(SPTBN5):c.10631A>G (p.Gln3544Arg)	SPTBN5 (Q3544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322514	NM_016642.4(SPTBN5):c.10604C>G (p.Thr3535Ser)	SPTBN5 (T3535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246829	NM_016642.4(SPTBN5):c.10601C>A (p.Pro3534His)	SPTBN5 (P3534H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224804	NM_016642.4(SPTBN5):c.10597A>G (p.Thr3533Ala)	SPTBN5 (T3533A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454861	NM_016642.4(SPTBN5):c.10564G>T (p.Ala3522Ser)	SPTBN5 (A3522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169631	NM_016642.4(SPTBN5):c.10529G>C (p.Arg3510Thr)	SPTBN5 (R3510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320147	NM_016642.4(SPTBN5):c.10513A>T (p.Thr3505Ser)	SPTBN5 (T3505S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531780	NM_016642.4(SPTBN5):c.10504A>G (p.Ser3502Gly)	SPTBN5 (S3502G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224756	NM_016642.4(SPTBN5):c.10472A>C (p.Gln3491Pro)	SPTBN5 (Q3491P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617577	NM_016642.4(SPTBN5):c.10429G>A (p.Ala3477Thr)	SPTBN5 (A3477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049217	NM_016642.4(SPTBN5):c.10347+10G>T	SPTBN5	Single nucleotide variant (intron variant)	SPTBN5-related disorder	GLikely benign
Select item 3050707	NM_016642.4(SPTBN5):c.10338C>T (p.Pro3446=)	SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 1183547	NM_016642.4(SPTBN5):c.10320G>A (p.Glu3440=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2672584	NM_016642.4(SPTBN5):c.10286T>C (p.Leu3429Pro)	SPTBN5 (L3429P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2320651	NM_016642.4(SPTBN5):c.10281G>C (p.Gln3427His)	SPTBN5 (Q3427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475429	NM_016642.4(SPTBN5):c.10280A>G (p.Gln3427Arg)	SPTBN5 (Q3427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204149	NM_016642.4(SPTBN5):c.10269G>T (p.Gln3423His)	SPTBN5 (Q3423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474383	NM_016642.4(SPTBN5):c.10262G>A (p.Gly3421Asp)	SPTBN5 (G3421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041877	NM_016642.4(SPTBN5):c.10243C>T (p.Arg3415Cys)	SPTBN5 (R3415C)	Single nucleotide variant (missense variant)	SPTBN5-related disorder	GBenign
Select item 3169741	NM_016642.4(SPTBN5):c.10087A>G (p.Ile3363Val)	SPTBN5 (I3363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645204	NM_016642.4(SPTBN5):c.10040C>T (p.Ala3347Val)	SPTBN5 (A3347V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2645205	NM_016642.4(SPTBN5):c.10033G>A (p.Asp3345Asn)	SPTBN5 (D3345N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3322489	NM_016642.4(SPTBN5):c.10013C>A (p.Ser3338Tyr)	SPTBN5 (S3338Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481101	NM_016642.4(SPTBN5):c.9994G>A (p.Glu3332Lys)	SPTBN5 (E3332K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2372853	NM_016642.4(SPTBN5):c.9917G>A (p.Arg3306Gln)	SPTBN5 (R3306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466183	NM_016642.4(SPTBN5):c.9863G>A (p.Gly3288Asp)	SPTBN5 (G3288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645206	NM_016642.4(SPTBN5):c.9856C>T (p.Pro3286Ser)	SPTBN5 (P3286S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3322519	NM_016642.4(SPTBN5):c.9835G>A (p.Gly3279Ser)	SPTBN5 (G3279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169740	NM_016642.4(SPTBN5):c.9830G>A (p.Arg3277Gln)	SPTBN5 (R3277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178516	NM_016642.4(SPTBN5):c.9824C>G (p.Ala3275Gly)	SPTBN5 (A3275G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306005	NM_016642.4(SPTBN5):c.9818C>A (p.Thr3273Lys)	SPTBN5 (T3273K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169739	NM_016642.4(SPTBN5):c.9787G>T (p.Ala3263Ser)	SPTBN5 (A3263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169738	NM_016642.4(SPTBN5):c.9745A>C (p.Thr3249Pro)	SPTBN5 (T3249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353453	NM_016642.4(SPTBN5):c.9695C>T (p.Thr3232Met)	SPTBN5 (T3232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516736	NM_016642.4(SPTBN5):c.9677G>A (p.Gly3226Glu)	SPTBN5 (G3226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295295	NM_016642.4(SPTBN5):c.9611G>A (p.Arg3204His)	SPTBN5 (R3204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322499	NM_016642.4(SPTBN5):c.9610C>T (p.Arg3204Cys)	SPTBN5 (R3204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645207	NM_016642.4(SPTBN5):c.9564C>T (p.Ser3188=)	SPTBN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470278	NM_016642.4(SPTBN5):c.9539A>G (p.Tyr3180Cys)	SPTBN5 (Y3180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259030	NM_016642.4(SPTBN5):c.9519G>T (p.Glu3173Asp)	SPTBN5 (E3173D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292292	NM_016642.4(SPTBN5):c.9491C>A (p.Ala3164Asp)	SPTBN5 (A3164D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169735	NM_016642.4(SPTBN5):c.9425T>A (p.Val3142Glu)	SPTBN5 (V3142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634848	NM_016642.4(SPTBN5):c.9424-1G>C	SPTBN5	Single nucleotide variant (splice acceptor variant)	SPTBN5-related disorder	GUncertain significance
Select item 2410350	NM_016642.4(SPTBN5):c.9400G>A (p.Gly3134Arg)	SPTBN5 (G3134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169734	NM_016642.4(SPTBN5):c.9385G>A (p.Glu3129Lys)	SPTBN5 (E3129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057282	NM_016642.4(SPTBN5):c.9384C>T (p.Ala3128=)	SPTBN5	Single nucleotide variant (synonymous variant)	SPTBN5-related disorder	GLikely benign
Select item 3322492	NM_016642.4(SPTBN5):c.9382G>A (p.Ala3128Thr)	SPTBN5 (A3128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541116	NM_016642.4(SPTBN5):c.9377C>T (p.Ala3126Val)	SPTBN5 (A3126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465133	NM_016642.4(SPTBN5):c.9374C>T (p.Ala3125Val)	SPTBN5 (A3125V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296363	NM_016642.4(SPTBN5):c.9352G>A (p.Asp3118Asn)	SPTBN5 (D3118N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550653	NM_016642.4(SPTBN5):c.9346C>T (p.Leu3116Phe)	SPTBN5 (L3116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169733	NM_016642.4(SPTBN5):c.9339G>C (p.Glu3113Asp)	SPTBN5 (E3113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169732	NM_016642.4(SPTBN5):c.9337G>A (p.Glu3113Lys)	SPTBN5 (E3113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504141	NM_016642.4(SPTBN5):c.9307G>A (p.Glu3103Lys)	SPTBN5 (E3103K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3169731	NM_016642.4(SPTBN5):c.9295C>T (p.His3099Tyr)	SPTBN5 (H3099Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591374	NM_016642.4(SPTBN5):c.9292G>A (p.Gly3098Arg)	SPTBN5 (G3098R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169730	NM_016642.4(SPTBN5):c.9281C>A (p.Ala3094Glu)	SPTBN5 (A3094E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645208	NM_016642.4(SPTBN5):c.9281C>T (p.Ala3094Val)	SPTBN5 (A3094V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2373627	NM_016642.4(SPTBN5):c.9274C>T (p.Arg3092Trp)	SPTBN5 (R3092W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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