ClinVar for Gene (Select 10343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306979	NM_006071.2(PKDREJ):c.5687T>C (p.Leu1896Pro)	PKDREJ (L1896P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306978	NM_006071.2(PKDREJ):c.2437A>G (p.Ser813Gly)	PKDREJ (S813G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306977	NM_006071.2(PKDREJ):c.1997C>T (p.Thr666Ile)	PKDREJ (T666I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306976	NM_006071.2(PKDREJ):c.2423C>A (p.Thr808Asn)	PKDREJ (T808N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306975	NM_006071.2(PKDREJ):c.5516G>A (p.Gly1839Asp)	PKDREJ (G1839D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306974	NM_006071.2(PKDREJ):c.6206C>T (p.Ser2069Phe)	PKDREJ (S2069F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306973	NM_006071.2(PKDREJ):c.4718C>G (p.Pro1573Arg)	PKDREJ (P1573R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306972	NM_006071.2(PKDREJ):c.4711G>C (p.Val1571Leu)	PKDREJ (V1571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306971	NM_006071.2(PKDREJ):c.4666C>G (p.Pro1556Ala)	PKDREJ (P1556A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306970	NM_006071.2(PKDREJ):c.167T>G (p.Leu56Arg)	PKDREJ (L56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306969	NM_006071.2(PKDREJ):c.6662T>C (p.Ile2221Thr)	PKDREJ (I2221T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3306968	NM_006071.2(PKDREJ):c.727G>T (p.Ala243Ser)	PKDREJ (A243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306967	NM_006071.2(PKDREJ):c.217G>C (p.Gly73Arg)	PKDREJ (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306966	NM_006071.2(PKDREJ):c.4455T>G (p.His1485Gln)	PKDREJ (H1485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306965	NM_006071.2(PKDREJ):c.1348G>T (p.Val450Leu)	PKDREJ (V450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306964	NM_006071.2(PKDREJ):c.1565T>C (p.Ile522Thr)	PKDREJ (I522T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306963	NM_006071.2(PKDREJ):c.2342T>C (p.Val781Ala)	PKDREJ (V781A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306962	NM_006071.2(PKDREJ):c.314C>A (p.Pro105Gln)	PKDREJ (P105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306961	NM_006071.2(PKDREJ):c.3160C>T (p.Arg1054Cys)	PKDREJ (R1054C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306960	NM_006071.2(PKDREJ):c.3827G>A (p.Arg1276Gln)	PKDREJ (R1276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306959	NM_006071.2(PKDREJ):c.281G>A (p.Arg94His)	PKDREJ (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306958	NM_006071.2(PKDREJ):c.2521A>G (p.Ile841Val)	PKDREJ (I841V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3306957	NM_006071.2(PKDREJ):c.1891C>G (p.Pro631Ala)	PKDREJ (P631A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306956	NM_006071.2(PKDREJ):c.32G>C (p.Gly11Ala)	PKDREJ (G11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248117	NC_000022.10:g.(?_45958792)_(46971995_?)del	GTSE1, MIRLET7A3 +11 more	Deletion	not provided	GPathogenic
Select item 3213742	NM_006071.2(PKDREJ):c.988T>C (p.Trp330Arg)	PKDREJ (W330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213740	NM_006071.2(PKDREJ):c.6683C>G (p.Pro2228Arg)	PKDREJ (P2228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213739	NM_006071.2(PKDREJ):c.6649C>G (p.Pro2217Ala)	PKDREJ (P2217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213738	NM_006071.2(PKDREJ):c.6608T>C (p.Met2203Thr)	PKDREJ (M2203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213737	NM_006071.2(PKDREJ):c.6395G>A (p.Cys2132Tyr)	PKDREJ (C2132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213736	NM_006071.2(PKDREJ):c.6328G>T (p.Val2110Leu)	PKDREJ (V2110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213735	NM_006071.2(PKDREJ):c.5901G>C (p.Leu1967Phe)	PKDREJ (L1967F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213734	NM_006071.2(PKDREJ):c.5897A>G (p.Tyr1966Cys)	PKDREJ (Y1966C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213733	NM_006071.2(PKDREJ):c.5435T>C (p.Phe1812Ser)	PKDREJ (F1812S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213732	NM_006071.2(PKDREJ):c.5418T>G (p.Cys1806Trp)	PKDREJ (C1806W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213731	NM_006071.2(PKDREJ):c.5404A>C (p.Ser1802Arg)	PKDREJ (S1802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213730	NM_006071.2(PKDREJ):c.5372T>G (p.Leu1791Arg)	PKDREJ (L1791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213729	NM_006071.2(PKDREJ):c.4913C>T (p.Thr1638Met)	PKDREJ (T1638M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213728	NM_006071.2(PKDREJ):c.4804T>G (p.Tyr1602Asp)	PKDREJ (Y1602D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213727	NM_006071.2(PKDREJ):c.4705C>T (p.Arg1569Trp)	PKDREJ (R1569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213726	NM_006071.2(PKDREJ):c.4522C>T (p.Leu1508Phe)	PKDREJ (L1508F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213725	NM_006071.2(PKDREJ):c.4486G>C (p.Glu1496Gln)	PKDREJ (E1496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213724	NM_006071.2(PKDREJ):c.3914G>A (p.Arg1305Gln)	PKDREJ (R1305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213723	NM_006071.2(PKDREJ):c.3791A>G (p.His1264Arg)	PKDREJ (H1264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213722	NM_006071.2(PKDREJ):c.3442G>A (p.Gly1148Arg)	PKDREJ (G1148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213721	NM_006071.2(PKDREJ):c.3439A>G (p.Ile1147Val)	PKDREJ (I1147V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213720	NM_006071.2(PKDREJ):c.340G>C (p.Asp114His)	PKDREJ (D114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213719	NM_006071.2(PKDREJ):c.3254G>A (p.Arg1085His)	PKDREJ (R1085H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213718	NM_006071.2(PKDREJ):c.3161G>A (p.Arg1054His)	PKDREJ (R1054H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213717	NM_006071.2(PKDREJ):c.3117C>G (p.Ser1039Arg)	PKDREJ (S1039R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213716	NM_006071.2(PKDREJ):c.2899A>T (p.Thr967Ser)	PKDREJ (T967S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213715	NM_006071.2(PKDREJ):c.2344T>C (p.Trp782Arg)	PKDREJ (W782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213714	NM_006071.2(PKDREJ):c.2266G>C (p.Val756Leu)	PKDREJ (V756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213713	NM_006071.2(PKDREJ):c.2215G>C (p.Asp739His)	PKDREJ (D739H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213712	NM_006071.2(PKDREJ):c.2173C>T (p.Pro725Ser)	PKDREJ (P725S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213711	NM_006071.2(PKDREJ):c.1507A>G (p.Met503Val)	PKDREJ (M503V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213710	NM_006071.2(PKDREJ):c.1210G>A (p.Ala404Thr)	PKDREJ (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653301	NM_006071.2(PKDREJ):c.3786C>T (p.Asp1262=)	PKDREJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653300	NM_006071.2(PKDREJ):c.3846C>T (p.Phe1282=)	PKDREJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653299	NM_006071.2(PKDREJ):c.5688G>A (p.Leu1896=)	PKDREJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653298	NM_006071.2(PKDREJ):c.6258C>T (p.Leu2086=)	PKDREJ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614197	NM_006071.2(PKDREJ):c.2051T>G (p.Leu684Arg)	PKDREJ (L684R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609202	NM_006071.2(PKDREJ):c.979G>A (p.Val327Ile)	PKDREJ (V327I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609103	NM_006071.2(PKDREJ):c.16G>A (p.Ala6Thr)	PKDREJ (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607384	NM_006071.2(PKDREJ):c.4378A>C (p.Lys1460Gln)	PKDREJ (K1460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600461	NM_006071.2(PKDREJ):c.2993T>C (p.Leu998Pro)	PKDREJ (L998P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594399	NM_006071.2(PKDREJ):c.397C>T (p.Pro133Ser)	PKDREJ (P133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592007	NM_006071.2(PKDREJ):c.3445C>T (p.Leu1149Phe)	PKDREJ (L1149F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591685	NM_006071.2(PKDREJ):c.1582C>T (p.Arg528Trp)	PKDREJ (R528W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591045	NM_006071.2(PKDREJ):c.5795C>T (p.Ser1932Leu)	PKDREJ (S1932L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590457	NM_006071.2(PKDREJ):c.1768A>C (p.Lys590Gln)	PKDREJ (K590Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589345	NM_006071.2(PKDREJ):c.5243C>G (p.Ser1748Cys)	PKDREJ (S1748C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588380	NM_006071.2(PKDREJ):c.2396G>A (p.Arg799Gln)	PKDREJ (R799Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552455	NM_006071.2(PKDREJ):c.4066G>T (p.Asp1356Tyr)	PKDREJ (D1356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549422	NM_006071.2(PKDREJ):c.791T>C (p.Val264Ala)	PKDREJ (V264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547436	NM_006071.2(PKDREJ):c.3830G>T (p.Gly1277Val)	PKDREJ (G1277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547055	NM_006071.2(PKDREJ):c.1951G>A (p.Val651Ile)	PKDREJ (V651I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539810	NM_006071.2(PKDREJ):c.3890G>A (p.Arg1297His)	PKDREJ (R1297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532567	NM_006071.2(PKDREJ):c.1013C>A (p.Ala338Glu)	PKDREJ (A338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523142	NM_006071.2(PKDREJ):c.5122C>G (p.Leu1708Val)	PKDREJ (L1708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514422	NM_006071.2(PKDREJ):c.436C>T (p.Arg146Trp)	PKDREJ (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495268	NM_006071.2(PKDREJ):c.3113C>T (p.Ala1038Val)	PKDREJ (A1038V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492513	NM_006071.2(PKDREJ):c.905T>C (p.Val302Ala)	PKDREJ (V302A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485137	NM_006071.2(PKDREJ):c.3467C>T (p.Thr1156Ile)	PKDREJ (T1156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479034	NM_006071.2(PKDREJ):c.4001C>G (p.Ser1334Cys)	PKDREJ (S1334C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477210	NM_006071.2(PKDREJ):c.6677G>C (p.Gly2226Ala)	PKDREJ (G2226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473983	NM_006071.2(PKDREJ):c.97G>A (p.Ala33Thr)	PKDREJ (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471535	NM_006071.2(PKDREJ):c.3617A>G (p.Tyr1206Cys)	PKDREJ (Y1206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470401	NM_006071.2(PKDREJ):c.2896C>T (p.Leu966Phe)	PKDREJ (L966F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469774	NM_006071.2(PKDREJ):c.4616A>T (p.Asn1539Ile)	PKDREJ (N1539I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465677	NM_006071.2(PKDREJ):c.3466A>G (p.Thr1156Ala)	PKDREJ (T1156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459140	NM_006071.2(PKDREJ):c.4472A>C (p.Lys1491Thr)	PKDREJ (K1491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457308	NM_006071.2(PKDREJ):c.595T>C (p.Ser199Pro)	PKDREJ (S199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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