ClinVar for Gene (Select 5803) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2657968	NM_002851.3(PTPRZ1):c.3210C>G (p.Val1070=)	PTPRZ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624140	NM_002851.3(PTPRZ1):c.1039G>A (p.Ala347Thr)	PTPRZ1 (A347T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621615	NM_002851.3(PTPRZ1):c.1684A>G (p.Thr562Ala)	PTPRZ1 (T562A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617835	NM_002851.3(PTPRZ1):c.4669G>A (p.Asp1557Asn)	PTPRZ1 (D1543N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610504	NM_002851.3(PTPRZ1):c.5013T>A (p.Phe1671Leu)	PTPRZ1 (F1671L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609364	NM_002851.3(PTPRZ1):c.5239C>T (p.His1747Tyr)	PTPRZ1 (H1733Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603037	NM_002851.3(PTPRZ1):c.6793G>A (p.Val2265Ile)	PTPRZ1 (V2258I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602866	NM_002851.3(PTPRZ1):c.1693A>G (p.Ile565Val)	PTPRZ1 (I551V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600701	NM_002851.3(PTPRZ1):c.5168C>A (p.Thr1723Lys)	PTPRZ1 (T1709K +2 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595792	NM_002851.3(PTPRZ1):c.6116A>T (p.Asp2039Val)	PTPRZ1 (D2025V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594929	NM_002851.3(PTPRZ1):c.1774G>A (p.Ala592Thr)	PTPRZ1 (A592T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594827	NM_002851.3(PTPRZ1):c.2746A>G (p.Met916Val)	PTPRZ1 (M902V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593188	NM_002851.3(PTPRZ1):c.4753G>A (p.Gly1585Ser)	PTPRZ1 (G1585S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2565998	NM_002851.3(PTPRZ1):c.2498G>A (p.Arg833His)	PTPRZ1 (R819H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2540264	NM_002851.3(PTPRZ1):c.2686T>C (p.Ser896Pro)	PTPRZ1 (S882P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536651	NM_002851.3(PTPRZ1):c.4246G>A (p.Gly1416Ser)	PTPRZ1 (G1402S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531542	NM_002851.3(PTPRZ1):c.4042G>A (p.Val1348Ile)	PTPRZ1 (V1334I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526086	NM_002851.3(PTPRZ1):c.4340C>T (p.Ser1447Phe)	PTPRZ1 (S1433F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523601	NM_002851.3(PTPRZ1):c.3472A>G (p.Ser1158Gly)	PTPRZ1 (S1144G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519055	NM_002851.3(PTPRZ1):c.4284T>G (p.Asp1428Glu)	PTPRZ1 (D1428E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518241	NM_002851.3(PTPRZ1):c.1942A>G (p.Met648Val)	PTPRZ1 (M634V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2512908	NM_002851.3(PTPRZ1):c.943C>G (p.Pro315Ala)	PTPRZ1 (P301A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511492	NM_002851.3(PTPRZ1):c.1244T>A (p.Leu415His)	PTPRZ1 (L415H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495616	NM_002851.3(PTPRZ1):c.6505G>A (p.Asp2169Asn)	PTPRZ1 (D2155N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486871	NM_002851.3(PTPRZ1):c.828G>A (p.Met276Ile)	PTPRZ1 (M262I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474550	NM_002851.3(PTPRZ1):c.1982C>G (p.Thr661Arg)	PTPRZ1 (T647R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472284	NM_002851.3(PTPRZ1):c.4894G>A (p.Glu1632Lys)	PTPRZ1 (E1632K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466905	NM_002851.3(PTPRZ1):c.3862A>G (p.Ser1288Gly)	PTPRZ1 (S1288G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464429	NM_002851.3(PTPRZ1):c.1219G>A (p.Asp407Asn)	PTPRZ1 (D407N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461774	NM_002851.3(PTPRZ1):c.5791G>A (p.Val1931Ile)	PTPRZ1 (V1064I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457714	NM_002851.3(PTPRZ1):c.4432T>A (p.Ser1478Thr)	PTPRZ1 (S1464T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409483	NM_002851.3(PTPRZ1):c.1442G>A (p.Arg481Gln)	PTPRZ1 (R467Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397876	NM_002851.3(PTPRZ1):c.2548G>A (p.Glu850Lys)	PTPRZ1 (E836K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395166	NM_002851.3(PTPRZ1):c.5036C>G (p.Pro1679Arg)	PTPRZ1 (P1665R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393596	NM_002851.3(PTPRZ1):c.4970G>T (p.Gly1657Val)	PTPRZ1 (G1643V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348973	NM_002851.3(PTPRZ1):c.4118A>T (p.His1373Leu)	PTPRZ1 (H1373L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346865	NM_002851.3(PTPRZ1):c.358G>A (p.Val120Met)	PTPRZ1 (V120M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343964	NM_002851.3(PTPRZ1):c.5690C>T (p.Thr1897Met)	PTPRZ1 (T1037M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343394	NM_002851.3(PTPRZ1):c.559A>G (p.Thr187Ala)	PTPRZ1 (T173A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341703	NM_002851.3(PTPRZ1):c.4126A>G (p.Ile1376Val)	PTPRZ1 (I1362V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332274	NM_002851.3(PTPRZ1):c.238C>A (p.Leu80Ile)	PTPRZ1 (L80I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330739	NM_002851.3(PTPRZ1):c.5048C>G (p.Ser1683Cys)	PTPRZ1 (S1669C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313190	NM_002851.3(PTPRZ1):c.4810G>A (p.Glu1604Lys)	PTPRZ1 (E1604K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307813	NM_002851.3(PTPRZ1):c.6344C>T (p.Ala2115Val)	PTPRZ1 (A2101V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304926	NM_002851.3(PTPRZ1):c.6688G>T (p.Ala2230Ser)	PTPRZ1 (A1370S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297223	NM_002851.3(PTPRZ1):c.1772C>G (p.Pro591Arg)	PTPRZ1 (P577R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292524	NM_002851.3(PTPRZ1):c.1406G>A (p.Arg469His)	PTPRZ1 (R455H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285898	NM_002851.3(PTPRZ1):c.2590G>C (p.Gly864Arg)	PTPRZ1 (G864R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282188	NM_002851.3(PTPRZ1):c.4551T>G (p.Asp1517Glu)	PTPRZ1 (D1503E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282187	NM_002851.3(PTPRZ1):c.3141A>G (p.Ile1047Met)	PTPRZ1 (I1047M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2280541	NM_002851.3(PTPRZ1):c.5737A>G (p.Thr1913Ala)	PTPRZ1 (T1053A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279446	NM_002851.3(PTPRZ1):c.6735A>T (p.Lys2245Asn)	PTPRZ1 (K1378N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278685	NM_002851.3(PTPRZ1):c.4285G>A (p.Asp1429Asn)	PTPRZ1 (D1429N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270734	NM_002851.3(PTPRZ1):c.1817G>A (p.Gly606Glu)	PTPRZ1 (G606E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268347	NM_002851.3(PTPRZ1):c.2305C>G (p.Pro769Ala)	PTPRZ1 (P755A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263839	NM_002851.3(PTPRZ1):c.601G>A (p.Glu201Lys)	PTPRZ1 (E187K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256292	NM_002851.3(PTPRZ1):c.3484T>C (p.Ser1162Pro)	PTPRZ1 (S1148P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248944	NM_002851.3(PTPRZ1):c.6416A>C (p.Asp2139Ala)	PTPRZ1 (D2132A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245689	NM_002851.3(PTPRZ1):c.3005A>G (p.Asp1002Gly)	PTPRZ1 (D1002G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245237	NM_002851.3(PTPRZ1):c.2165A>C (p.Glu722Ala)	PTPRZ1 (E708A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240204	NM_002851.3(PTPRZ1):c.2921C>T (p.Ser974Phe)	PTPRZ1 (S960F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239554	NM_002851.3(PTPRZ1):c.6046G>A (p.Gly2016Arg)	PTPRZ1 (G1149R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238155	NM_002851.3(PTPRZ1):c.229C>T (p.Leu77Phe)	PTPRZ1 (L63F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235184	NM_002851.3(PTPRZ1):c.3499C>A (p.Leu1167Ile)	PTPRZ1 (L1153I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233616	NM_002851.3(PTPRZ1):c.2227G>A (p.Val743Met)	PTPRZ1 (V729M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233112	NM_002851.3(PTPRZ1):c.6758A>G (p.Gln2253Arg)	PTPRZ1 (Q1386R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232822	NM_002851.3(PTPRZ1):c.5491G>A (p.Glu1831Lys)	PTPRZ1 (E1824K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225270	NM_002851.3(PTPRZ1):c.2533G>C (p.Val845Leu)	PTPRZ1 (V831L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218086	NM_002851.3(PTPRZ1):c.1388C>T (p.Thr463Ile)	PTPRZ1 (T449I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209041	NM_002851.3(PTPRZ1):c.5548G>A (p.Gly1850Arg)	PTPRZ1 (G983R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204618	NM_002851.3(PTPRZ1):c.1450A>G (p.Thr484Ala)	PTPRZ1 (T484A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204232	NM_002851.3(PTPRZ1):c.1082A>G (p.His361Arg)	PTPRZ1 (H361R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +2 more	GPathogenic
Select item 975916	NM_001206838.1(PTPRZ1):c.1241-1_1245del	PTPRZ1	Deletion	Spastic paraparesis	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 786773	NM_002851.3(PTPRZ1):c.3864T>C (p.Ser1288=)	PTPRZ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774133	NM_002851.3(PTPRZ1):c.3498G>A (p.Gln1166=)	PTPRZ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773495	NM_002851.3(PTPRZ1):c.3238A>C (p.Lys1080Gln)	PTPRZ1 (K1066Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773494	NM_002851.3(PTPRZ1):c.3070G>C (p.Val1024Leu)	PTPRZ1 (V1010L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 746607	NM_002851.3(PTPRZ1):c.4899C>T (p.Ser1633=)	PTPRZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741354	NM_002851.3(PTPRZ1):c.879T>C (p.Ser293=)	PTPRZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738957	NM_002851.3(PTPRZ1):c.5081-4G>A	PTPRZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729560	NM_002851.3(PTPRZ1):c.1098T>C (p.Asp366=)	PTPRZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726411	NM_002851.3(PTPRZ1):c.552+9T>C	PTPRZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717861	NM_002851.3(PTPRZ1):c.2121T>C (p.Asp707=)	PTPRZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 686444	GRCh37/hg19 7q31.32(chr7:121467966-121532823)x3	PTPRZ1	Copy number gain	not provided	GUncertain significance
Select item 686029	GRCh37/hg19 7q31.32(chr7:121467966-121532823)x3	PTPRZ1	Copy number gain	not provided	GUncertain significance
Select item 623402	NM_002851.3(PTPRZ1):c.6169A>G (p.Ile2057Val)	PTPRZ1 (I1197V +4 more)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic

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