AK7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance
Select item 2892751	NM_152327.5(AK7):c.7G>A (p.Glu3Lys)	AK7, LOC130056398 (E3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777289	NM_152327.5(AK7):c.22G>C (p.Ala8Pro)	AK7, LOC130056398 (A8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993685	NM_152327.5(AK7):c.25G>C (p.Ala9Pro)	AK7, LOC130056398 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959677	NM_152327.5(AK7):c.30C>T (p.Leu10=)	AK7, LOC130056398	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585993	NM_152327.5(AK7):c.30C>G (p.Leu10=)	AK7, LOC130056398	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939611	NM_152327.5(AK7):c.33G>C (p.Thr11=)	AK7, LOC130056398	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372247	NM_152327.5(AK7):c.44T>C (p.Ile15Thr)	AK7 (I15T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653243	NM_152327.5(AK7):c.51C>A (p.Thr17=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1925096	NM_152327.5(AK7):c.54G>A (p.Gln18=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022160	NM_152327.5(AK7):c.60G>T (p.Val20=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899872	NM_152327.5(AK7):c.82T>A (p.Tyr28Asn)	AK7 (Y28N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595858	NM_152327.5(AK7):c.99C>A (p.Ile33=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898820	NM_152327.5(AK7):c.100G>A (p.Gly34Arg)	AK7 (G34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966428	NM_152327.5(AK7):c.105G>A (p.Lys35=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1987509	NM_152327.5(AK7):c.105+4_105+9dup	AK7	Duplication (intron variant)	not provided	GBenign
Select item 2822626	NM_152327.5(AK7):c.105+9C>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729388	NM_152327.5(AK7):c.105+10G>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778672	NM_152327.5(AK7):c.105+16G>A	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905826	NM_152327.5(AK7):c.105+16G>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693772	NM_152327.5(AK7):c.106-14C>G	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835592	NM_152327.5(AK7):c.106-7C>A	AK7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2766021	NM_152327.5(AK7):c.135G>C (p.Ser45=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746987	NM_152327.5(AK7):c.135G>A (p.Ser45=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198171	NM_152327.5(AK7):c.153GGAAGA[2] (p.Glu55_Glu56del)	AK7	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1478833	NM_152327.5(AK7):c.153GGAAGA[1] (p.Glu53_Glu56del)	AK7	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2159212	NM_152327.5(AK7):c.168A>G (p.Glu56=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052195	NM_152327.5(AK7):c.198T>G (p.Ala66=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176617	NM_152327.5(AK7):c.205A>T (p.Thr69Ser)	AK7 (T69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325423	NM_152327.5(AK7):c.212T>G (p.Val71Gly)	AK7 (V71G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426838	NM_152327.5(AK7):c.223A>C (p.Thr75Pro)	AK7 (T75P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174639	NM_152327.5(AK7):c.242C>T (p.Thr81Met)	AK7 (T81M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2192736	NM_152327.5(AK7):c.243G>A (p.Thr81=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103814	NM_152327.5(AK7):c.248C>G (p.Ser83Cys)	AK7 (S83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2894602	NM_152327.5(AK7):c.262_263insTGCC (p.Pro88fs)	AK7 (P88fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1501554	NM_152327.5(AK7):c.265C>T (p.Arg89Trp)	AK7 (R89W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424672	NM_152327.5(AK7):c.266G>A (p.Arg89Gln)	AK7 (R89Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1911313	NM_152327.5(AK7):c.273C>T (p.Asp91=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016917	NM_152327.5(AK7):c.277G>A (p.Ala93Thr)	AK7 (A93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997808	NM_152327.5(AK7):c.278C>T (p.Ala93Val)	AK7 (A93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170450	NM_152327.5(AK7):c.285G>C (p.Glu95Asp)	AK7 (E95D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1354700	NM_152327.5(AK7):c.286A>G (p.Thr96Ala)	AK7 (T96A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020703	NM_152327.5(AK7):c.287C>G (p.Thr96Arg)	AK7 (T96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005862	NM_152327.5(AK7):c.287C>T (p.Thr96Met)	AK7 (T96M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667106	NM_152327.5(AK7):c.288G>A (p.Thr96=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065386	NM_152327.5(AK7):c.289T>C (p.Tyr97His)	AK7 (Y97H)	Single nucleotide variant (missense variant)	Spermatogenic failure 27	GUncertain significance
Select item 2994499	NM_152327.5(AK7):c.294+10G>A	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114820	NM_152327.5(AK7):c.294+14G>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652886	NM_152327.5(AK7):c.294+16T>C	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848642	NM_152327.5(AK7):c.294+20G>A	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768058	NM_152327.5(AK7):c.294+20G>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2480795	NM_152327.5(AK7):c.295G>C (p.Ala99Pro)	AK7 (A99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1936307	NM_152327.5(AK7):c.304C>T (p.Arg102Ter)	AK7 (R102*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 402360	NM_152327.5(AK7):c.305G>A (p.Arg102Gln)	AK7 (R102Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2032675	NM_152327.5(AK7):c.310G>C (p.Asp104His)	AK7 (D104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413360	NM_152327.5(AK7):c.310G>T (p.Asp104Tyr)	AK7 (D104Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2513875	NM_152327.5(AK7):c.323G>A (p.Arg108His)	AK7 (R108H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2070337	NM_152327.5(AK7):c.323G>T (p.Arg108Leu)	AK7 (R108L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823584	NM_152327.5(AK7):c.334T>G (p.Cys112Gly)	AK7 (C112G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936953	NM_152327.5(AK7):c.341T>A (p.Val114Asp)	AK7 (V114D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635606	NM_152327.5(AK7):c.354C>T (p.Asn118=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955447	NM_152327.5(AK7):c.357C>T (p.Ile119=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944088	NM_152327.5(AK7):c.364A>C (p.Ser122Arg)	AK7 (S122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785111	NM_152327.5(AK7):c.377T>G (p.Met126Arg)	AK7 (M126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085486	NM_152327.5(AK7):c.402T>C (p.Ser134=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2830573	NM_152327.5(AK7):c.403+2T>A	AK7	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2779870	NM_152327.5(AK7):c.403+11T>G	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657339	NM_152327.5(AK7):c.403+17C>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636491	NM_152327.5(AK7):c.403+20T>C	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984227	NM_152327.5(AK7):c.404-19C>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785927	NM_152327.5(AK7):c.436C>T (p.Arg146Ter)	AK7 (R146*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2542757	NM_152327.5(AK7):c.447T>G (p.Phe149Leu)	AK7 (F149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1455781	NM_152327.5(AK7):c.455T>C (p.Leu152Pro)	AK7 (L152P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3103855	NM_152327.5(AK7):c.457T>C (p.Ser153Pro)	AK7 (S153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2159542	NM_152327.5(AK7):c.458C>T (p.Ser153Leu)	AK7 (S153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032925	NM_152327.5(AK7):c.459G>A (p.Ser153=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644500	NM_152327.5(AK7):c.471T>C (p.Thr157=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017656	NM_152327.5(AK7):c.477G>A (p.Ala159=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967046	NM_152327.5(AK7):c.498C>A (p.Pro166=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2991655	NM_152327.5(AK7):c.498+1G>A	AK7	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2895278	NM_152327.5(AK7):c.498+2dup	AK7	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3001654	NM_152327.5(AK7):c.498+4A>T	AK7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1597399	NM_152327.5(AK7):c.498+7A>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588814	NM_152327.5(AK7):c.498+8G>A	AK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2961971	NM_152327.5(AK7):c.498+15A>G	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619164	NM_152327.5(AK7):c.498+17C>T	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561307	NM_152327.5(AK7):c.499-8T>C	AK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2177030	NM_152327.5(AK7):c.499-5A>G	AK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646766	NM_152327.5(AK7):c.507T>C (p.Ser169=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2764636	NM_152327.5(AK7):c.517T>C (p.Phe173Leu)	AK7 (F173L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953215	NM_152327.5(AK7):c.535C>T (p.Arg179Ter)	AK7 (R179*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2783429	NM_152327.5(AK7):c.546G>A (p.Lys182=)	AK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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