ZP4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 102

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 148436	GRCh38/hg38 1q43(chr1:237322513-240310271)x1	CHRM3, CHRM3-AS1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 2483409	NM_021186.5(ZP4):c.1579G>T (p.Ala527Ser)	ZP4 (A527S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 791844	NM_021186.5(ZP4):c.1511C>T (p.Ser504Leu)	ZP4 (S504L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 773296	NM_021186.5(ZP4):c.1481C>T (p.Pro494Leu)	ZP4 (P494L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3259989	NM_021186.5(ZP4):c.1430C>T (p.Ala477Val)	ZP4 (A477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199236	NM_021186.5(ZP4):c.1408A>C (p.Asn470His)	ZP4 (N470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494912	NM_021186.5(ZP4):c.1370T>C (p.Val457Ala)	ZP4 (V457A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605076	NM_021186.5(ZP4):c.1280C>G (p.Pro427Arg)	ZP4 (P427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475136	NM_021186.5(ZP4):c.1255A>G (p.Ile419Val)	ZP4 (I419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199234	NM_021186.5(ZP4):c.1247G>A (p.Arg416His)	ZP4 (R416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310306	NM_021186.5(ZP4):c.1247G>T (p.Arg416Leu)	ZP4 (R416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398721	NM_021186.5(ZP4):c.1235C>T (p.Ser412Phe)	ZP4 (S412F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491891	NM_021186.5(ZP4):c.1122C>A (p.Asp374Glu)	ZP4 (D374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485391	NM_021186.5(ZP4):c.1117A>G (p.Thr373Ala)	ZP4 (T373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461100	NM_021186.5(ZP4):c.1072C>A (p.Pro358Thr)	ZP4 (P358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199232	NM_021186.5(ZP4):c.1042G>A (p.Val348Met)	ZP4 (V348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199231	NM_021186.5(ZP4):c.1028G>A (p.Arg343Gln)	ZP4 (R343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199240	NM_021186.5(ZP4):c.994G>A (p.Gly332Ser)	ZP4 (G332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290108	NM_021186.5(ZP4):c.986C>T (p.Ser329Phe)	ZP4 (S329F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366902	NM_021186.5(ZP4):c.950T>C (p.Leu317Pro)	ZP4 (L317P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551251	NM_021186.5(ZP4):c.929C>G (p.Thr310Ser)	ZP4 (T310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293367	NM_021186.5(ZP4):c.905C>A (p.Thr302Asn)	ZP4 (T302N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238231	NM_021186.5(ZP4):c.886A>G (p.Ile296Val)	ZP4 (I296V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 773297	NM_021186.5(ZP4):c.883C>T (p.Pro295Ser)	ZP4 (P295S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2509143	NM_021186.5(ZP4):c.824G>A (p.Arg275His)	ZP4 (R275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524594	NM_021186.5(ZP4):c.812G>T (p.Gly271Val)	ZP4 (G271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386698	NM_021186.5(ZP4):c.808C>T (p.Arg270Cys)	ZP4 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300680	NM_021186.5(ZP4):c.802G>A (p.Gly268Arg)	ZP4 (G268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747897	NM_021186.5(ZP4):c.801T>C (p.Asn267=)	ZP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358830	NM_021186.5(ZP4):c.790G>A (p.Asp264Asn)	ZP4 (D264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378367	NM_021186.5(ZP4):c.788G>A (p.Arg263Lys)	ZP4 (R263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309177	NM_021186.5(ZP4):c.744C>G (p.Ile248Met)	ZP4 (I248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330815	NM_021186.5(ZP4):c.665C>T (p.Ala222Val)	ZP4 (A222V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199239	NM_021186.5(ZP4):c.641G>T (p.Arg214Leu)	ZP4 (R214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245934	NM_021186.5(ZP4):c.637G>T (p.Val213Leu)	ZP4 (V213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382158	NM_021186.5(ZP4):c.572G>A (p.Arg191Gln)	ZP4 (R191Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398659	NM_021186.5(ZP4):c.446G>A (p.Arg149Gln)	ZP4 (R149Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358296	NM_021186.5(ZP4):c.445C>T (p.Arg149Trp)	ZP4 (R149W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517175	NM_021186.5(ZP4):c.433T>C (p.Ser145Pro)	ZP4 (S145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559869	NM_021186.5(ZP4):c.413C>T (p.Pro138Leu)	ZP4 (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259980	NM_021186.5(ZP4):c.374T>A (p.Leu125Gln)	ZP4 (L125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773476	NM_021186.5(ZP4):c.341C>T (p.Ala114Val)	ZP4 (A114V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3259990	NM_021186.5(ZP4):c.338G>A (p.Gly113Asp)	ZP4 (G113D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199237	NM_021186.5(ZP4):c.316C>A (p.Pro106Thr)	ZP4 (P106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161747	NM_021186.5(ZP4):c.214G>A (p.Asp72Asn)	ZP4 (D72N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3199235	NM_021186.5(ZP4):c.133C>T (p.Leu45Phe)	ZP4 (L45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259987	NM_021186.5(ZP4):c.119A>C (p.Gln40Pro)	ZP4 (Q40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557611	NM_021186.5(ZP4):c.107C>T (p.Pro36Leu)	ZP4 (P36L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373458	NM_021186.5(ZP4):c.63T>A (p.His21Gln)	ZP4 (H21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310428	NM_021186.5(ZP4):c.34T>G (p.Ser12Ala)	ZP4 (S12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259988	NM_021186.5(ZP4):c.14G>A (p.Arg5Gln)	ZP4 (R5Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063210	GRCh37/hg19 1q43(chr1:237966553-240835685)x1	CHRM3, FMN2 +3 more	Copy number loss	not specified	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1684549	GRCh37/hg19 1q43(chr1:237219730-238406325)x1	RYR2, ZP4	Copy number loss	See cases	GUncertain significance
Select item 1527681	GRCh37/hg19 1q43(chr1:237764484-238849083)	RYR2, ZP4	Copy number gain	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 689438	Single allele	CHML, CHRM3 +12 more	Deletion	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625534	GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)	ACTN2, ARID4B +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 625533	GRCh37/hg19 1q42.3-43(chr1:234742890-239475761)	ACTN2, ARID4B +19 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442051	GRCh37/hg19 1q43(chr1:237672980-240999398)x1	CHRM3, FMN2 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441651	GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1	ACTN2, ARID4B +23 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2