ClinVar for Gene (Select 219578) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3198542	NM_181646.5(ZNF804B):c.853C>T (p.Pro285Ser)	ZNF804B (P285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198541	NM_181646.5(ZNF804B):c.827C>T (p.Thr276Ile)	ZNF804B (T276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198540	NM_181646.5(ZNF804B):c.533C>A (p.Ser178Tyr)	ZNF804B (S178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198539	NM_181646.5(ZNF804B):c.417G>C (p.Arg139Ser)	ZNF804B (R139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198538	NM_181646.5(ZNF804B):c.3986C>G (p.Ser1329Cys)	ZNF804B (S1329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198537	NM_181646.5(ZNF804B):c.3973C>T (p.His1325Tyr)	ZNF804B (H1325Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198536	NM_181646.5(ZNF804B):c.3071A>G (p.Asn1024Ser)	ZNF804B (N1024S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198535	NM_181646.5(ZNF804B):c.2969G>T (p.Arg990Ile)	ZNF804B (R990I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198534	NM_181646.5(ZNF804B):c.2964G>T (p.Glu988Asp)	ZNF804B (E988D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198533	NM_181646.5(ZNF804B):c.2825G>C (p.Ser942Thr)	ZNF804B (S942T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198532	NM_181646.5(ZNF804B):c.2752G>A (p.Gly918Arg)	ZNF804B (G918R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198531	NM_181646.5(ZNF804B):c.2661G>T (p.Arg887Ser)	ZNF804B (R887S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198529	NM_181646.5(ZNF804B):c.2530C>G (p.Pro844Ala)	ZNF804B (P844A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198528	NM_181646.5(ZNF804B):c.2249T>C (p.Val750Ala)	ZNF804B (V750A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198527	NM_181646.5(ZNF804B):c.2033A>G (p.Lys678Arg)	ZNF804B (K678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198526	NM_181646.5(ZNF804B):c.1985C>T (p.Thr662Ile)	ZNF804B (T662I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198525	NM_181646.5(ZNF804B):c.1913A>C (p.Lys638Thr)	ZNF804B (K638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198524	NM_181646.5(ZNF804B):c.1559C>A (p.Thr520Asn)	ZNF804B (T520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198523	NM_181646.5(ZNF804B):c.1480C>A (p.Leu494Ile)	ZNF804B (L494I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198522	NM_181646.5(ZNF804B):c.1277G>T (p.Arg426Ile)	ZNF804B (R426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198521	NM_181646.5(ZNF804B):c.1246A>G (p.Lys416Glu)	ZNF804B (K416E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198520	NM_181646.5(ZNF804B):c.1087G>A (p.Ala363Thr)	ZNF804B (A363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198519	NM_181646.5(ZNF804B):c.1003G>T (p.Asp335Tyr)	ZNF804B (D335Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176415	NM_152706.4(TEX47):c.65T>C (p.Phe22Ser)	TEX47, ZNF804B (F22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684494	GRCh37/hg19 7q21.13(chr7:88851863-90433435)x3	CDK14, CFAP69 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2657664	NM_181646.5(ZNF804B):c.2211T>A (p.Gly737=)	ZNF804B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604574	NM_181646.5(ZNF804B):c.1104C>G (p.Ser368Arg)	ZNF804B (S368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569604	NM_181646.5(ZNF804B):c.127T>C (p.Ser43Pro)	ZNF804B (S43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567706	NM_181646.5(ZNF804B):c.2863T>G (p.Leu955Val)	ZNF804B (L955V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547914	NM_181646.5(ZNF804B):c.315G>T (p.Glu105Asp)	ZNF804B (E105D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547342	NM_181646.5(ZNF804B):c.644A>G (p.His215Arg)	ZNF804B (H215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545867	NM_181646.5(ZNF804B):c.2912G>A (p.Gly971Asp)	ZNF804B (G971D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536714	NM_181646.5(ZNF804B):c.509G>C (p.Gly170Ala)	ZNF804B (G170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517596	NM_181646.5(ZNF804B):c.544C>T (p.Arg182Trp)	ZNF804B (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513043	NM_181646.5(ZNF804B):c.2468C>T (p.Thr823Met)	ZNF804B (T823M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491733	NM_181646.5(ZNF804B):c.2575A>G (p.Ile859Val)	ZNF804B (I859V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488617	NM_181646.5(ZNF804B):c.736C>T (p.His246Tyr)	ZNF804B (H246Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484723	NM_181646.5(ZNF804B):c.755C>T (p.Pro252Leu)	ZNF804B (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465558	NM_181646.5(ZNF804B):c.3934C>A (p.Pro1312Thr)	ZNF804B (P1312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462462	NM_181646.5(ZNF804B):c.913G>C (p.Asp305His)	ZNF804B (D305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411801	NM_181646.5(ZNF804B):c.3415A>C (p.Ile1139Leu)	ZNF804B (I1139L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411800	NM_181646.5(ZNF804B):c.1596A>C (p.Gln532His)	ZNF804B (Q532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410961	NM_181646.5(ZNF804B):c.766A>G (p.Thr256Ala)	ZNF804B (T256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402060	NM_181646.5(ZNF804B):c.3029A>G (p.His1010Arg)	ZNF804B (H1010R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400090	NM_181646.5(ZNF804B):c.1723A>G (p.Met575Val)	ZNF804B (M575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397077	NM_181646.5(ZNF804B):c.2396G>A (p.Arg799His)	ZNF804B (R799H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393343	NM_181646.5(ZNF804B):c.3233C>T (p.Pro1078Leu)	ZNF804B (P1078L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391316	NM_181646.5(ZNF804B):c.1450C>T (p.Leu484Phe)	ZNF804B (L484F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380371	NM_181646.5(ZNF804B):c.821A>G (p.His274Arg)	ZNF804B (H274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367011	NM_181646.5(ZNF804B):c.3425C>T (p.Pro1142Leu)	ZNF804B (P1142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352045	NM_181646.5(ZNF804B):c.2495C>T (p.Ser832Leu)	ZNF804B (S832L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346801	NM_181646.5(ZNF804B):c.953T>C (p.Ile318Thr)	ZNF804B (I318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342836	NM_181646.5(ZNF804B):c.1735A>G (p.Lys579Glu)	ZNF804B (K579E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340703	NM_181646.5(ZNF804B):c.4009G>A (p.Glu1337Lys)	ZNF804B (E1337K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339587	NM_181646.5(ZNF804B):c.3962A>G (p.Gln1321Arg)	ZNF804B (Q1321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324722	NM_181646.5(ZNF804B):c.781G>A (p.Asp261Asn)	ZNF804B (D261N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324339	NM_181646.5(ZNF804B):c.3530A>G (p.His1177Arg)	ZNF804B (H1177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312868	NM_181646.5(ZNF804B):c.261A>C (p.Glu87Asp)	ZNF804B (E87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289790	NM_181646.5(ZNF804B):c.3796C>T (p.His1266Tyr)	ZNF804B (H1266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285426	NM_181646.5(ZNF804B):c.2501T>C (p.Ile834Thr)	ZNF804B (I834T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272507	NM_181646.5(ZNF804B):c.3424C>G (p.Pro1142Ala)	ZNF804B (P1142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268150	NM_181646.5(ZNF804B):c.2201A>G (p.Asn734Ser)	ZNF804B (N734S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252770	NM_181646.5(ZNF804B):c.2027T>A (p.Ile676Asn)	ZNF804B (I676N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252720	NM_181646.5(ZNF804B):c.3318T>G (p.His1106Gln)	ZNF804B (H1106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246820	NM_181646.5(ZNF804B):c.636T>G (p.Asn212Lys)	ZNF804B (N212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243444	NM_181646.5(ZNF804B):c.3820A>T (p.Thr1274Ser)	ZNF804B (T1274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239814	NM_181646.5(ZNF804B):c.655G>A (p.Val219Ile)	ZNF804B (V219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218232	NM_181646.5(ZNF804B):c.845A>T (p.Asn282Ile)	ZNF804B (N282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527374	GRCh37/hg19 7q21.12-21.13(chr7:87482666-89449405)	ADAM22, DBF4 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979631	GRCh37/hg19 7q21.13(chr7:88248134-89667010)x1	TEX47, ZNF804B	Copy number loss	not provided	GLikely benign
Select item 929825	GRCh37/hg19 7q21.13(chr7:88547866-89880949)x3	CFAP69, STEAP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 929384	GRCh37/hg19 7q21.12-21.13(chr7:88148465-89871132)x3	STEAP1, STEAP2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 815007	GRCh37/hg19 7q21.13(chr7:88533008-90192559)x1	STEAP1, GTPBP10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 792082	NM_181646.5(ZNF804B):c.1105C>T (p.Pro369Ser)	ZNF804B (P369S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776235	NM_181646.5(ZNF804B):c.2740A>C (p.Asn914His)	ZNF804B (N914H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768177	NM_181646.5(ZNF804B):c.2893A>G (p.Ile965Val)	ZNF804B (I965V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748449	NM_181646.5(ZNF804B):c.3447A>G (p.Thr1149=)	ZNF804B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733661	NM_181646.5(ZNF804B):c.231T>C (p.Tyr77=)	ZNF804B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727304	NM_181646.5(ZNF804B):c.3201C>T (p.Asp1067=)	ZNF804B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726064	NM_181646.5(ZNF804B):c.108+10G>A	ZNF804B	Single nucleotide variant	not provided	GBenign
Select item 725593	NM_181646.5(ZNF804B):c.2997G>T (p.Arg999Ser)	ZNF804B (R999S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725592	NM_181646.5(ZNF804B):c.2519G>A (p.Ser840Asn)	ZNF804B (S840N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716145	NM_181646.5(ZNF804B):c.2890A>G (p.Thr964Ala)	ZNF804B (T964A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716083	NM_181646.5(ZNF804B):c.1179T>G (p.Ser393Arg)	ZNF804B (S393R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716082	NM_181646.5(ZNF804B):c.1168C>A (p.Leu390Met)	ZNF804B (L390M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709872	NM_181646.5(ZNF804B):c.2592C>T (p.Tyr864=)	ZNF804B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709871	NM_181646.5(ZNF804B):c.2242C>T (p.His748Tyr)	ZNF804B (H748Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709870	NM_181646.5(ZNF804B):c.1629G>A (p.Pro543=)	ZNF804B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709869	NM_181646.5(ZNF804B):c.1225A>G (p.Asn409Asp)	ZNF804B (N409D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688106	GRCh37/hg19 7q21.13(chr7:88343564-89895714)x3	CFAP69, STEAP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686785	GRCh37/hg19 7q21.12-21.13(chr7:88151483-89895851)x3	CFAP69, STEAP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563400	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89884701)x3	ZNF804B, STEAP1 +3 more	Copy number gain	not provided	GLikely benign
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 547154	GRCh37/hg19 7q21.13(chr7:88659782-89076913)x1	ZNF804B	Copy number loss	not provided	GLikely benign
Select item 443970	GRCh37/hg19 7q21.12-21.13(chr7:88146318-89885423)x4	CFAP69, STEAP1 +3 more	Copy number gain	See cases	GUncertain significance

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