HELZ2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	ARFGAP1, ARFRP1 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	LOC130066361, LOC130066362 +102 more	Duplication	not provided	GUncertain significance
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 58979	GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1	EEF1A2, FNDC11 +59 more	Copy number loss	See cases	GPathogenic
Select item 2558132	NM_001037335.2(HELZ2):c.7941G>A (p.Met2647Ile)	HELZ2 (M2078I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712818	NM_001037335.2(HELZ2):c.7918C>T (p.Arg2640Cys)	HELZ2 (R2071C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2652546	NM_001037335.2(HELZ2):c.7908C>T (p.Ala2636=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652547	NM_001037335.2(HELZ2):c.7899C>T (p.Leu2633=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289794	NM_001037335.2(HELZ2):c.7844G>A (p.Arg2615His)	HELZ2 (R2046H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105216	NM_001037335.2(HELZ2):c.7796C>T (p.Thr2599Met)	HELZ2 (T2599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530957	NM_001037335.2(HELZ2):c.7775A>G (p.Asn2592Ser)	HELZ2 (N2023S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590697	NM_001037335.2(HELZ2):c.7724G>A (p.Arg2575Gln)	HELZ2 (R2575Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321784	NM_001037335.2(HELZ2):c.7723C>T (p.Arg2575Trp)	HELZ2 (R2006W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275553	NM_001037335.2(HELZ2):c.7694G>A (p.Arg2565His)	HELZ2 (R1996H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652548	NM_001037335.2(HELZ2):c.7689C>T (p.Thr2563=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286792	NM_001037335.2(HELZ2):c.7670G>A (p.Arg2557His)	HELZ2 (R1988H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494162	NM_001037335.2(HELZ2):c.7652G>A (p.Ser2551Asn)	HELZ2 (S2551N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318152	NM_001037335.2(HELZ2):c.7612G>C (p.Glu2538Gln)	HELZ2 (E2538Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105215	NM_001037335.2(HELZ2):c.7607G>A (p.Arg2536Gln)	HELZ2 (R1967Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105214	NM_001037335.2(HELZ2):c.7606C>T (p.Arg2536Trp)	HELZ2 (R1967W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291880	NM_001037335.2(HELZ2):c.7577C>T (p.Ala2526Val)	HELZ2 (A1957V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348347	NM_001037335.2(HELZ2):c.7558G>A (p.Val2520Ile)	HELZ2 (V2520I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2203929	NM_001037335.2(HELZ2):c.7504C>T (p.Arg2502Cys)	HELZ2 (R1933C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105213	NM_001037335.2(HELZ2):c.7483G>A (p.Glu2495Lys)	HELZ2 (E1926K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378959	NM_001037335.2(HELZ2):c.7455A>T (p.Glu2485Asp)	HELZ2 (E2485D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105212	NM_001037335.2(HELZ2):c.7426G>A (p.Glu2476Lys)	HELZ2 (E2476K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481572	NM_001037335.2(HELZ2):c.7378G>A (p.Ala2460Thr)	HELZ2 (A1891T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297287	NM_001037335.2(HELZ2):c.7246G>A (p.Glu2416Lys)	HELZ2 (E1847K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480182	NM_001037335.2(HELZ2):c.7222C>T (p.Arg2408Trp)	HELZ2 (R2408W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618390	NM_001037335.2(HELZ2):c.7165C>T (p.His2389Tyr)	HELZ2 (H1820Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357792	NM_001037335.2(HELZ2):c.7156C>T (p.Leu2386Phe)	HELZ2 (L1817F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105210	NM_001037335.2(HELZ2):c.7138G>A (p.Ala2380Thr)	HELZ2 (A1811T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489714	NM_001037335.2(HELZ2):c.7090A>C (p.Met2364Leu)	HELZ2 (M1795L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309540	NM_001037335.2(HELZ2):c.6960G>C (p.Lys2320Asn)	HELZ2 (K1751N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105209	NM_001037335.2(HELZ2):c.6884C>G (p.Ser2295Trp)	HELZ2 (S1726W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652549	NM_001037335.2(HELZ2):c.6821C>T (p.Pro2274Leu)	HELZ2 (P1705L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3105207	NM_001037335.2(HELZ2):c.6640C>T (p.Pro2214Ser)	HELZ2 (P2214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613538	NM_001037335.2(HELZ2):c.6635G>T (p.Gly2212Val)	HELZ2 (G2212V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105205	NM_001037335.2(HELZ2):c.6625A>C (p.Lys2209Gln)	HELZ2 (K1640Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255433	NM_001037335.2(HELZ2):c.6622G>A (p.Glu2208Lys)	HELZ2 (E1639K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105204	NM_001037335.2(HELZ2):c.6616C>T (p.Arg2206Cys)	HELZ2 (R1637C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370427	NM_001037335.2(HELZ2):c.6614C>G (p.Pro2205Arg)	HELZ2 (P2205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203940	NM_001037335.2(HELZ2):c.6610C>A (p.Pro2204Thr)	HELZ2 (P1635T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550485	NM_001037335.2(HELZ2):c.6490G>T (p.Ala2164Ser)	HELZ2 (A2164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105202	NM_001037335.2(HELZ2):c.6479C>A (p.Ala2160Glu)	HELZ2 (A1591E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105201	NM_001037335.2(HELZ2):c.6421C>T (p.Arg2141Trp)	HELZ2 (R2141W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105200	NM_001037335.2(HELZ2):c.6381G>A (p.Pro2127=)	HELZ2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3105199	NM_001037335.2(HELZ2):c.6380C>G (p.Pro2127Arg)	HELZ2 (P1558R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522287	NM_001037335.2(HELZ2):c.6380C>T (p.Pro2127Leu)	HELZ2 (P1558L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105198	NM_001037335.2(HELZ2):c.6373C>A (p.Pro2125Thr)	HELZ2 (P1556T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338159	NM_001037335.2(HELZ2):c.6371G>A (p.Arg2124Gln)	HELZ2 (R2124Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470738	NM_001037335.2(HELZ2):c.6323G>A (p.Arg2108His)	HELZ2 (R2108H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239088	NM_001037335.2(HELZ2):c.6319G>C (p.Val2107Leu)	HELZ2 (V2107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591361	NM_001037335.2(HELZ2):c.6305G>A (p.Arg2102His)	HELZ2 (R2102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105197	NM_001037335.2(HELZ2):c.6304C>T (p.Arg2102Cys)	HELZ2 (R1533C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746634	NM_001037335.2(HELZ2):c.6270C>T (p.Thr2090=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2303263	NM_001037335.2(HELZ2):c.6218T>C (p.Met2073Thr)	HELZ2 (M1504T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341089	NM_001037335.2(HELZ2):c.6194G>A (p.Arg2065Gln)	HELZ2 (R1496Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105196	NM_001037335.2(HELZ2):c.6193C>T (p.Arg2065Trp)	HELZ2 (R2065W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371375	NM_001037335.2(HELZ2):c.6176G>A (p.Arg2059Gln)	HELZ2 (R1490Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652550	NM_001037335.2(HELZ2):c.6164G>A (p.Arg2055His)	HELZ2 (R1486H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2318478	NM_001037335.2(HELZ2):c.6162G>T (p.Glu2054Asp)	HELZ2 (E1485D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271200	NM_001037335.2(HELZ2):c.6135C>A (p.His2045Gln)	HELZ2 (H2045Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652551	NM_001037335.2(HELZ2):c.6067C>T (p.Arg2023Cys)	HELZ2 (R1454C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2568494	NM_001037335.2(HELZ2):c.6056C>T (p.Thr2019Met)	HELZ2 (T1450M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521436	NM_001037335.2(HELZ2):c.6040G>A (p.Gly2014Arg)	HELZ2 (G2014R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105194	NM_001037335.2(HELZ2):c.5991C>G (p.Asn1997Lys)	HELZ2 (N1997K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318150	NM_001037335.2(HELZ2):c.5962C>A (p.Arg1988Ser)	HELZ2 (R1419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105193	NM_001037335.2(HELZ2):c.5959T>C (p.Phe1987Leu)	HELZ2 (F1418L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617993	NM_001037335.2(HELZ2):c.5936C>T (p.Pro1979Leu)	HELZ2 (P1410L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545608	NM_001037335.2(HELZ2):c.5933C>T (p.Thr1978Met)	HELZ2 (T1978M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388808	NM_001037335.2(HELZ2):c.5929C>T (p.Arg1977Trp)	HELZ2 (R1408W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105191	NM_001037335.2(HELZ2):c.5924C>T (p.Ala1975Val)	HELZ2 (A1406V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384064	NM_001037335.2(HELZ2):c.5909G>A (p.Ser1970Asn)	HELZ2 (S1970N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652552	NM_001037335.2(HELZ2):c.5877C>G (p.Ala1959=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2206330	NM_001037335.2(HELZ2):c.5870C>T (p.Ala1957Val)	HELZ2 (A1388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478536	NM_001037335.2(HELZ2):c.5866G>A (p.Gly1956Ser)	HELZ2 (G1387S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220207	NM_001037335.2(HELZ2):c.5830G>A (p.Val1944Met)	HELZ2 (V1375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509939	NM_001037335.2(HELZ2):c.5801G>A (p.Arg1934Gln)	HELZ2 (R1934Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364644	NM_001037335.2(HELZ2):c.5785C>T (p.Arg1929Trp)	HELZ2 (R1360W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234953	NM_001037335.2(HELZ2):c.5713G>A (p.Val1905Met)	HELZ2 (V1905M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397206	NM_001037335.2(HELZ2):c.5662G>A (p.Gly1888Ser)	HELZ2 (G1319S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782667	NM_001037335.2(HELZ2):c.5647C>T (p.Leu1883=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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