ClinVar for Gene (Select 10343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2609202	NM_006071.2(PKDREJ):c.979G>A (p.Val327Ile)	PKDREJ (V327I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609103	NM_006071.2(PKDREJ):c.16G>A (p.Ala6Thr)	PKDREJ (A6T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607384	NM_006071.2(PKDREJ):c.4378A>C (p.Lys1460Gln)	PKDREJ (K1460Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600461	NM_006071.2(PKDREJ):c.2993T>C (p.Leu998Pro)	PKDREJ (L998P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594399	NM_006071.2(PKDREJ):c.397C>T (p.Pro133Ser)	PKDREJ (P133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592007	NM_006071.2(PKDREJ):c.3445C>T (p.Leu1149Phe)	PKDREJ (L1149F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591685	NM_006071.2(PKDREJ):c.1582C>T (p.Arg528Trp)	PKDREJ (R528W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591045	NM_006071.2(PKDREJ):c.5795C>T (p.Ser1932Leu)	PKDREJ (S1932L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590457	NM_006071.2(PKDREJ):c.1768A>C (p.Lys590Gln)	PKDREJ (K590Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589345	NM_006071.2(PKDREJ):c.5243C>G (p.Ser1748Cys)	PKDREJ (S1748C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588380	NM_006071.2(PKDREJ):c.2396G>A (p.Arg799Gln)	PKDREJ (R799Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552455	NM_006071.2(PKDREJ):c.4066G>T (p.Asp1356Tyr)	PKDREJ (D1356Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549422	NM_006071.2(PKDREJ):c.791T>C (p.Val264Ala)	PKDREJ (V264A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547436	NM_006071.2(PKDREJ):c.3830G>T (p.Gly1277Val)	PKDREJ (G1277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547055	NM_006071.2(PKDREJ):c.1951G>A (p.Val651Ile)	PKDREJ (V651I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539810	NM_006071.2(PKDREJ):c.3890G>A (p.Arg1297His)	PKDREJ (R1297H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532567	NM_006071.2(PKDREJ):c.1013C>A (p.Ala338Glu)	PKDREJ (A338E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523142	NM_006071.2(PKDREJ):c.5122C>G (p.Leu1708Val)	PKDREJ (L1708V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514422	NM_006071.2(PKDREJ):c.436C>T (p.Arg146Trp)	PKDREJ (R146W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495268	NM_006071.2(PKDREJ):c.3113C>T (p.Ala1038Val)	PKDREJ (A1038V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492513	NM_006071.2(PKDREJ):c.905T>C (p.Val302Ala)	PKDREJ (V302A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485137	NM_006071.2(PKDREJ):c.3467C>T (p.Thr1156Ile)	PKDREJ (T1156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479034	NM_006071.2(PKDREJ):c.4001C>G (p.Ser1334Cys)	PKDREJ (S1334C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477210	NM_006071.2(PKDREJ):c.6677G>C (p.Gly2226Ala)	PKDREJ (G2226A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473983	NM_006071.2(PKDREJ):c.97G>A (p.Ala33Thr)	PKDREJ (A33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471535	NM_006071.2(PKDREJ):c.3617A>G (p.Tyr1206Cys)	PKDREJ (Y1206C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470401	NM_006071.2(PKDREJ):c.2896C>T (p.Leu966Phe)	PKDREJ (L966F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469774	NM_006071.2(PKDREJ):c.4616A>T (p.Asn1539Ile)	PKDREJ (N1539I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465677	NM_006071.2(PKDREJ):c.3466A>G (p.Thr1156Ala)	PKDREJ (T1156A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459140	NM_006071.2(PKDREJ):c.4472A>C (p.Lys1491Thr)	PKDREJ (K1491T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457308	NM_006071.2(PKDREJ):c.595T>C (p.Ser199Pro)	PKDREJ (S199P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455357	NM_006071.2(PKDREJ):c.2174C>T (p.Pro725Leu)	PKDREJ (P725L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454818	NM_006071.2(PKDREJ):c.4099C>T (p.Arg1367Trp)	PKDREJ (R1367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410836	NM_006071.2(PKDREJ):c.6304G>A (p.Val2102Ile)	PKDREJ (V2102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409540	NM_006071.2(PKDREJ):c.6199A>G (p.Arg2067Gly)	PKDREJ (R2067G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408166	NM_006071.2(PKDREJ):c.6428A>G (p.Asn2143Ser)	PKDREJ (N2143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2406151	NM_006071.2(PKDREJ):c.133G>C (p.Ala45Pro)	PKDREJ (A45P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404818	NM_006071.2(PKDREJ):c.236T>C (p.Phe79Ser)	PKDREJ (F79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396025	NM_006071.2(PKDREJ):c.3713C>T (p.Thr1238Ile)	PKDREJ (T1238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395839	NM_006071.2(PKDREJ):c.954G>A (p.Met318Ile)	PKDREJ (M318I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395637	NM_006071.2(PKDREJ):c.5195G>A (p.Arg1732His)	PKDREJ (R1732H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394900	NM_006071.2(PKDREJ):c.4572G>T (p.Arg1524Ser)	PKDREJ (R1524S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394198	NM_006071.2(PKDREJ):c.4033G>A (p.Val1345Ile)	PKDREJ (V1345I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385655	NM_006071.2(PKDREJ):c.5588C>T (p.Thr1863Met)	PKDREJ (T1863M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385077	NM_006071.2(PKDREJ):c.6014T>C (p.Leu2005Ser)	PKDREJ (L2005S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381678	NM_006071.2(PKDREJ):c.3634C>G (p.Gln1212Glu)	PKDREJ (Q1212E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379708	NM_006071.2(PKDREJ):c.601C>A (p.His201Asn)	PKDREJ (H201N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367235	NM_006071.2(PKDREJ):c.1361C>A (p.Pro454Gln)	PKDREJ (P454Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359290	NM_006071.2(PKDREJ):c.2945C>G (p.Thr982Arg)	PKDREJ (T982R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358665	NM_006071.2(PKDREJ):c.6095C>T (p.Ser2032Leu)	PKDREJ (S2032L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358045	NM_006071.2(PKDREJ):c.2333C>T (p.Thr778Ile)	PKDREJ (T778I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357357	NM_006071.2(PKDREJ):c.749C>G (p.Pro250Arg)	PKDREJ (P250R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357356	NM_006071.2(PKDREJ):c.139G>C (p.Gly47Arg)	PKDREJ (G47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356762	NM_006071.2(PKDREJ):c.4657G>A (p.Glu1553Lys)	PKDREJ (E1553K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352090	NM_006071.2(PKDREJ):c.647T>A (p.Val216Asp)	PKDREJ (V216D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340552	NM_006071.2(PKDREJ):c.2146G>A (p.Val716Ile)	PKDREJ (V716I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2338663	NM_006071.2(PKDREJ):c.1637G>T (p.Gly546Val)	PKDREJ (G546V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333458	NM_006071.2(PKDREJ):c.3050G>A (p.Ser1017Asn)	PKDREJ (S1017N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333415	NM_006071.2(PKDREJ):c.799G>T (p.Val267Leu)	PKDREJ (V267L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327740	NM_006071.2(PKDREJ):c.600C>A (p.Ser200Arg)	PKDREJ (S200R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2324681	NM_006071.2(PKDREJ):c.5822G>A (p.Gly1941Glu)	PKDREJ (G1941E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318070	NM_006071.2(PKDREJ):c.3901A>G (p.Asn1301Asp)	PKDREJ (N1301D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314153	NM_006071.2(PKDREJ):c.6113T>C (p.Ile2038Thr)	PKDREJ (I2038T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313916	NM_006071.2(PKDREJ):c.2936A>C (p.Lys979Thr)	PKDREJ (K979T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313148	NM_006071.2(PKDREJ):c.2449A>G (p.Ile817Val)	PKDREJ (I817V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313056	NM_006071.2(PKDREJ):c.4233T>G (p.Asn1411Lys)	PKDREJ (N1411K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309565	NM_006071.2(PKDREJ):c.5881G>T (p.Ala1961Ser)	PKDREJ (A1961S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305817	NM_006071.2(PKDREJ):c.2662A>G (p.Thr888Ala)	PKDREJ (T888A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303658	NM_006071.2(PKDREJ):c.5944G>A (p.Glu1982Lys)	PKDREJ (E1982K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301196	NM_006071.2(PKDREJ):c.2584T>A (p.Tyr862Asn)	PKDREJ (Y862N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298974	NM_006071.2(PKDREJ):c.5426C>A (p.Ala1809Asp)	PKDREJ (A1809D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298726	NM_006071.2(PKDREJ):c.575T>A (p.Met192Lys)	PKDREJ (M192K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291959	NM_006071.2(PKDREJ):c.5954T>A (p.Ile1985Asn)	PKDREJ (I1985N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288440	NM_006071.2(PKDREJ):c.3776G>A (p.Ser1259Asn)	PKDREJ (S1259N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284720	NM_006071.2(PKDREJ):c.436C>G (p.Arg146Gly)	PKDREJ (R146G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2284196	NM_006071.2(PKDREJ):c.5048C>T (p.Thr1683Met)	PKDREJ (T1683M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278429	NM_006071.2(PKDREJ):c.5727G>C (p.Glu1909Asp)	PKDREJ (E1909D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275177	NM_006071.2(PKDREJ):c.6283G>A (p.Val2095Ile)	PKDREJ (V2095I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273872	NM_006071.2(PKDREJ):c.2182G>A (p.Asp728Asn)	PKDREJ (D728N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264366	NM_006071.2(PKDREJ):c.493C>T (p.Arg165Cys)	PKDREJ (R165C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263394	NM_006071.2(PKDREJ):c.923C>T (p.Thr308Met)	PKDREJ (T308M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260398	NM_006071.2(PKDREJ):c.382T>G (p.Trp128Gly)	PKDREJ (W128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258320	NM_006071.2(PKDREJ):c.4907T>C (p.Phe1636Ser)	PKDREJ (F1636S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254569	NM_006071.2(PKDREJ):c.527G>A (p.Gly176Asp)	PKDREJ (G176D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254195	NM_006071.2(PKDREJ):c.2770A>C (p.Thr924Pro)	PKDREJ (T924P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252006	NM_006071.2(PKDREJ):c.4516C>T (p.Pro1506Ser)	PKDREJ (P1506S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250890	NM_006071.2(PKDREJ):c.2117C>T (p.Ala706Val)	PKDREJ (A706V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246725	NM_006071.2(PKDREJ):c.5624C>T (p.Thr1875Ile)	PKDREJ (T1875I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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